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Oh, Seong-il, Jin-Sung Park, Jung-Joon Sung, and Seung Hyun Kim. "Clinical Scales Used in Motor Neuron Disease." Journal of the Korean Neurological Association 39, no. 2 Suppl (May 1, 2021): 77–86. http://dx.doi.org/10.17340/jkna.2021.2.22.
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Motor neuron diseases (MND) are heterogeneous spectra of disorders that that primarily affect the motor neurons (MN) resulting in motor nerve and muscle degeneration. The pathophysiological mechanisms of MN cell death are known to be combined with disturbance of proteostasis, ribonucleostasis and exaggerated neuro-inflammation. Amyotrophic lateral sclerosis is the prototypic disease of MND followed by spinal and bulbar muscular atrophy, spinal muscular atrophy, benign focal amyotrophy and other various diseases. Although diverse spectra of these diseases share common symptoms, significant differences are known in their clinical manifestations and their clinical progression. With increasing number of new clinical trials, the importance of selecting appropriate clinical scales for the monitoring of clinical progression in different types of MNDs should be emphasized. The purpose of this review is to illustrate different types of clinical scales and demonstrate how to utilize these in the clinical research field with consensus. With these efforts, we hope to be ready to understand different kinds of clinical scales in MND in participating global standard clinical trials.
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Chancellor, A. M., A. Hendry, F. I. Caird, C. P. Warlow, and A. I. Weir. "Motor Neuron Disease: A Disease of Old Age." Scottish Medical Journal 38, no. 6 (December 1993): 178–82. http://dx.doi.org/10.1177/003693309303800606.
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There is little information dealing specifically with motor neuron disease (MND) in the elderly. Given current epidemiological trends, geriatricians will be increasingly called upon to diagnose and manage this condition. We report four patients who presented within a six month period to a geriatric medical unit, and place this experience in the perspective of 229 patients from a population-based study of adult-onset MND in Scotland in 1989 and 1990. In 1990 Scotland had a crude annual incidence of MND of 2.25/100,000; the figure for those over 65 is four times greater. MND is more common in men, but the sex ratio was nearly equal over the age of 65. The risk of presenting with bulbar palsy was greater in women, and even higher in elderly women. This, together with increasing age, is the most important negative prognostic factor in MND. Problems with the diagnosis and management of MND in the elderly are highlighted.
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Zhao, Jing, Claire H. Stevens, Andrew W. Boyd, Lezanne Ooi, and Perry F. Bartlett. "Role of EphA4 in Mediating Motor Neuron Death in MND." International Journal of Molecular Sciences 22, no. 17 (August 30, 2021): 9430. http://dx.doi.org/10.3390/ijms22179430.
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Motor neuron disease (MND) comprises a group of fatal neurodegenerative diseases with no effective cure. As progressive motor neuron cell death is one of pathological characteristics of MND, molecules which protect these cells are attractive therapeutic targets. Accumulating evidence indicates that EphA4 activation is involved in MND pathogenesis, and inhibition of EphA4 improves functional outcomes. However, the underlying mechanism of EphA4’s function in MND is unclear. In this review, we first present results to demonstrate that EphA4 signalling acts directly on motor neurons to cause cell death. We then review the three most likely mechanisms underlying this effect.
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Chopra, Aarti, Ravi Kumar, and Girendra Kumar Gautam. "A review: Management of motor neuron diseases." IP Indian Journal of Neurosciences 7, no. 4 (January 15, 2022): 292–94. http://dx.doi.org/10.18231/j.ijn.2021.053.
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Motor neuron diseases are a group of chronic sporadic and hereditary neurological disorders characterized by progressive degeneration of motor neurons. These might affect the upper motor neurons, lower motor neurons, or both. The prognosis of the motor neuron disease depends upon the age at onset and the area of the central nervous system affected. Amyotrophic lateral sclerosis (ALS) has been documented to be fatal within three years of onset. This activity focuses on amyotrophic lateral sclerosis as the prototype of MND, which affects both the upper and the lower motor neurons and discusses the role of inter-professional team in the differential diagnosis, evaluation, treatment, and prognostication. It also discusses various other phenotypes of MND with an emphasis on their distinguishing features in requisite detail.
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Bobade, Shweta Shivaling, Mahesh Somnath Mali, and Komal Dattatray Pol. "A Review on Effect of Physical Activity as an Exogenous Factor and Cognitive Change in Motor Neuron Disease." International Journal of Research and Review 9, no. 7 (July 19, 2022): 119–31. http://dx.doi.org/10.52403/ijrr.20220714.
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Motor neuron disease (MND) is a terrible neurodegenerative illness with a poor prognosis and significant impairment. Despite recent advances in symptomatic care, there are few medicines that can affect survival. However, a better understanding of the underlying etiology would substantially aid the task of finding effective treatments. In the etiology of MND, many potential external risk factors have been hypothesized as part of a gene-environment interaction. Following reports of a greater than predicted incidence of MND in professional athletes, there has been an increasing interest in the role of intensive physical exercise in the development of the disease. Current hypotheses about the cellular and genetic causes of MND also support this conclusion. Epidemiological evidence, on the other hand, is contradictory and inconclusive. FTD/motor neuron disease is the name given to a motor neuronopathy that complicates frontotemporal dementia (FTD) (MND). FTD is marked by severe personality changes, abnormal social behavior, and executive difficulties caused by frontal and temporal neocortical atrophy. Bulbar palsy and limb amyotrophy are symptoms of motor neuron disease. Micro vacuolation of the cerebral cortex is the most common histological alteration, along with atrophy of the bulbar neurons and anterior horn cells of the spinal cord. Large pyramidal cortical neurons, surviving cranial nerve nuclei, and anterior horn cells all have ubiquitinated inclusion bodies. Evidence is accumulating that some patients with classical MND/amyotrophic lateral sclerosis (ALS) who are not regarded to be demented show frontal executive function abnormalities. Moreover, frontal lobe abnormalities have been demonstrated by neuroimaging. Keywords: MND, FTD, ALS, motor neuron, behavior, physical activity, cognitive change.
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MacDonald, Allycia, Merrilee Needham, and Anthony Alvaro. "078 Sensory nerve abnormalities in motor neuron disease." Journal of Neurology, Neurosurgery & Psychiatry 90, e7 (July 2019): A25.1—A25. http://dx.doi.org/10.1136/jnnp-2019-anzan.66.
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IntroductionElectrodiagnostic evaluation is crucial in establishing the diagnosis of motor neuron disease (MND) and excluding other pathologies. It is recommended that sensory nerve conduction studies (NCS) include the ulnar and sural nerves, and generally accepted that sensory nerves are normal in MND. There are however previous reports in the literature documenting variable sensory abnormalities in patients with MND. We sought to determine the frequency of unexplained sensory abnormalities seen on NCS in patients with MND.MethodsMedical records of patients attending our tertiary MND clinic over a 2 year period were reviewed. We identified 92 patients with a clinical diagnosis of MND for whom electrodiagnostic studies were available to review. Sensory abnormalities in patients without a clear underlying aetiology (eg. compressive neuropathies, diabetes) were considered unexplained.ResultsUnexplained sensory abnormalities were detected in at least one nerve in 18/92 (20%) patients. In 17 of those 18 patients, the ulnar sensory response was abnormal. 12 of 18 patients demonstrated abnormalities in 2 or more sensory nerves. Sensory abnormalities were present in 4 of 37 (10.8%) patients with bulbar onset MND and 14 of 55 (25.4%) patients with limb onset MND. Sensory symptoms were infrequently reported and did not correlate with abnormalities found on NCS.ConclusionsUnexplained sensory nerve action potential abnormalities are not uncommon in MND, with ulnar sensory responses the most frequently affected. These findings raise the possibility of sensory nerve pathology in patients with MND and suggest that the presence of unexplained sensory abnormalities should not exclude a diagnosis of MND.
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Higashihara, Mana, Parvathi Menon, Nimeshan Geevasinga, Mehdi AJVan den Bos, Matthew C. Kiernan, and Steve Vucic. "092 Motor neuron disease with malignancy: clinical and pathophysiological insights." Journal of Neurology, Neurosurgery & Psychiatry 90, e7 (July 2019): A29.3—A30. http://dx.doi.org/10.1136/jnnp-2019-anzan.80.
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IntroductionWhile some regard an association between motor neuron disease (MND) and malignancy as co-incidental, others have argued that it could represent a distinct clinical entity. The present study undertook in depth phenotyping along with assessment of cortical function to further explore disease pathophysiology in MND with malignancy (MND-M) patients.MethodsClinical features along with assessment of peripheral and cortical function was undertaken in 13 MND-M and results were compared to sporadic and familial MND cohorts.ResultsFrom a cohort 13 patients (10 males; aged 65.2±2.0 years), 30.8% were diagnosed with a haematological malignancy. The lower motor neuron phenotype predominated in the in the MND-M patients (χ2=10.8, P<0.01), with the upper motor neuron (UMN) score being significantly reduced in MND-M patients compared to sporadic and familial MND cohorts (χ2=6.84, P<0.01). The neurological deficits did not respond to treatment of the underlying malignancy in the majority of MND-M (92%) patients, and as such there were no significant differences in survival between the cohorts. Despite a paucity of UMN signs, cortical hyperexcitability was evident in MND-M patients, as indicated by reduction in short interval intracortical inhibition (P<0.01) and increase in motor evoked potential amplitude (P<0.01), that were similar to findings in sporadic and familial MND cohorts.ConclusionsThe present study suggests that MND-M falls within the spectrum of MND. A co-incidental association between MND and malignancy is underscored by cortical dysfunction and clinical findings which seems within the spectrum of abnormality evident in classical MND phenotypes.
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Sassani, Matilde, James Alix, Kathleen Baster, Mara Cercignani, Pamela Shaw, and Thomas Jenkins. "176 Motor fatigability in motor neuron disease." Journal of Neurology, Neurosurgery & Psychiatry 93, no. 9 (August 12, 2022): e2.136. http://dx.doi.org/10.1136/jnnp-2022-abn2.220.
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This study aimed to quantify, characterise and localise motor fatigue in people with motor neuron disease (MND) using a combination of clinical assessments, neurophysiology and muscle phosphorus-31 magnetic resonance spectroscopy (31P-MRS).We quantified fatigability using the fatigue index (FI) in twenty patients and 10 healthy controls. F-wave amplitudes, motor unit number index (MUNIX) and 31P-MRS were acquired pre- and post-maximal voluntary contraction to investigate fatigability at different sites of the motor system (spinal cord, peripheral nerve and muscle, respectively). Between-group differences and associations were assessed using regression models.There were no between-group differences in FI (p=0.115). MUNIX (p=0.008) and f-wave amplitude (p=0.024) declined significantly post-contraction in controls, but not in patients (MUNIX p=0.284, f-wave p=0.264). FI was associated with resting intracellular magnesium (R=0.869, p=0.001, FDR-corrected) in controls, but not patients. Resting magnesium and post-contraction MUNIX decrease were associated with greater fatigue in controls. A decrease in post-contraction f-wave amplitude was associated with greater fatigue in patients, after accounting for denervation (MUNIX) and magnesium.There is a differential response to fatigue in MND compared to healthy controls. Fatigability appears related to spinal excitability (f-waves) in patients, whereas peripheral (MUNIX) and muscular (magnesium) components predominate in healthy controls.
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Bak, S., E. N. Stenager, E. Stenager, J. Boldsen, and T. A. Smith. "Suicide in Patients with Motor Neuron Disease." Behavioural Neurology 7, no. 3-4 (1994): 181–84. http://dx.doi.org/10.1155/1994/148023.
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The aim of the present study was to assess, through an epidemiological study, whether suicide risk is increased in patients with motor neuron disease (MND). The study involved 116 patients with MND. In the study period 92 patients died, 47 males and 45 females. No patients committed suicide. The number of expected suicides was 0.27 for males and 0.12 for females, a total of 0.38. The difference between observed and expected suicides was not statistically significant for males and females.
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Lad, Tanuj S. "An ‘Acute’ Presentation of Motor Neuron Disease." Acute Medicine Journal 10, no. 3 (July 1, 2011): 140–41. http://dx.doi.org/10.52964/amja.0494.
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Abstract Motor neurone disease (MND) is a chronic condition which presents mainly in the seventh and eighth decades. It classically presents with a mixture of upper and lower motor neurone features, with a predilection for the limb muscles as the presenting feature. The case report outlined below describes acute respiratory failure requiring non invasive ventilation (NIV), at the time of diagnosis of MND. It highlights the need for the acute physician to be vigilant in the differing forms of presentation of this condition and its subsequent diagnosis and management.
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Ebin, TU, PTN Vasudevan Moos, and AN Nambi. "A case study on Motor Neuron Disease." Journal of Ayurvedic and Herbal Medicine 7, no. 1 (March 30, 2021): 13–18. http://dx.doi.org/10.31254/jahm.2021.7104.
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Motor-neuron disease (MND) is a neuro-degenerative disease characterized by muscle wasting and loss of muscle strength. Amyotrophic lateral sclerosis (ALS) is the commonest among MND. Bibrachial amyotrophic diplegia is a variant of ALS where the disease is restricted to upper limbs. A case of Bibrachial amyotophy charaterised by weakness of both upper limbs associated with wasting was managed in SNA Ayurveda Nursing home. The condition is considered as Vataroga with special designation as ‘Bahusosha’. A 21 days treatment course was planned and executed which include Snehana, Swedana, Sodhana and Rasayana chikitsa. The patient was assessed symptomatically. A weekly assessment based on the quality of his daily activities was performed. A satisfactory improvement was observed with gradual gaining of upper limb strength. There was betterment in his gross and fine motor activities including quality of writing. The principle line of treatment was Dosha vilayana, Dosha sodhana, and Dathu vardhana which is found to be suitable for Vata – Kapha Roga.
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Gordon, Brian, Eimear Joyce, and Timothy J. Counihan. "Stridor: a rare presentation of motor neuron disease." BMJ Case Reports 14, no. 7 (July 2021): e241923. http://dx.doi.org/10.1136/bcr-2021-241923.
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A 74-year-old farmer presented to the emergency department with a subacute history of progressive dyspnoea, wheeze and dysphonia. He was treated for an exacerbation of asthma with poor response to pharmacological therapy. Investigation of dysphonia via laryngoscopy identified a bilateral vocal cord palsy. Subsequently, the patient developed an episode of life-threatening stridor and hypercapnic respiratory failure requiring an emergency tracheostomy. Neurology input identified evidence of widespread muscle fasciculations on clinical examination. MRI of the brain and cervical spine were unremarkable. Electromyogram testing identified changes of acute denervation in several limbs consistent with a diagnosis of motor neuron disease (MND). Bilateral vocal cord palsy has been rarely reported in the literature as the heralding symptom resulting in the diagnosis of MND. In patients with a subacute onset of dysphonia, dyspnoea and stridor, MND should be a differential diagnosis.
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Montagna, P., R. Liguori, R. Medori, R. Daidone, and R. Gallassi. "Cranial bone density in motor neuron disease (MND)." Italian Journal of Neurological Sciences 8, no. 1 (February 1987): 71–74. http://dx.doi.org/10.1007/bf02361440.
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Sorahan, Tom, and Linda Nichols. "Motor neuron disease risk and magnetic field exposures." Occupational Medicine 72, no. 3 (December 23, 2021): 184–90. http://dx.doi.org/10.1093/occmed/kqab180.
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Abstract Background Many studies have investigated magnetic field exposure and the risks of motor neuron disease (MND). Meta-analyses have found positive associations but a causal relationship has not been established. Aims To investigate the risks of MND and occupational exposure to magnetic fields in a large UK cohort. Methods Mortality of 37 986 employees of the former Central Electricity Generating Board of England and Wales was investigated for the period 1987–2018. Employees were first employed in the period 1942–82 and were still in employment on the 1 November, 1987. Detailed calculations enabled estimates to be made of magnetic field exposures. Observed deaths were compared with expected numbers based on mortality rates for the general population of England and Wales and Poisson regression was used to calculate rate ratios (relative risks) for categories of lifetime, lagged (distant) and lugged (recent) magnetic field exposure. Results Mortality from MND in the total cohort was similar to national rates (observed 69, expected 71.3, SMR 97, 95% CI 76–122). There were no statistically significant trends of risks increasing with lifetime, recent or distant magnetic field exposure, although positive associations were observed for some categories of recent exposure. Conclusions The study did not find that the cohort had elevated risks of MND as a consequence of occupational lifetime exposure to magnetic fields, although a possible role for recent exposures could usefully be investigated in other datasets.
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McHutchison, Caroline A., Danielle Jane Leighton, Andrew McIntosh, Elaine Cleary, Jon Warner, Mary Porteous, Siddharthan Chandran, Suvankar Pal, and Sharon Abrahams. "Relationship between neuropsychiatric disorders and cognitive and behavioural change in MND." Journal of Neurology, Neurosurgery & Psychiatry 91, no. 3 (December 23, 2019): 245–53. http://dx.doi.org/10.1136/jnnp-2019-321737.
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ObjectiveIn this population-based study, we aimed to determine whether neuropsychiatric history, medication or family history of neuropsychiatric disorders predicted cognitive and/or behavioural impairment in motor neuron disease (MND).MethodsPeople with MND (pwMND) on the Scottish Clinical, Audit, Research and Evaluation of MND (CARE-MND) register, diagnosed from January 2015 to January 2018, with cognitive and/or behavioural data measured using the Edinburgh Cognitive and Behavioural ALS Screen were included. Data were extracted on patient neuropsychiatric, medication and family history of neuropsychiatric disorders. We identified patients with cognitive impairment (motor neuron disease with cognitive impairment (MNDci)), behavioural impairment (motor neuron disease with behavioural impairment (MNDbi), both (motor neuron disease with cognitive and behavioural impairment (MNDcbi)) or motor neuron disease–frontotemporal dementia (MND-FTD).ResultsData were available for 305 pwMND (mean age at diagnosis=62.26 years, SD=11.40), of which 60 (19.7%) had a neuropsychiatric disorder. A family history of neuropsychiatric disorders was present in 36/231 (15.58%) of patients. Patient premorbid mood disorders were associated with increased apathy (OR=2.78, 95% CI 1.083 to 7.169). A family history of any neuropsychiatric disorder was associated with poorer visuospatial scores, MNDbi (OR=3.14, 95% CI 1.09 to 8.99) and MND-FTD (OR=5.08, 95% CI 1.26 to 20.40). A family history of mood disorders was associated with poorer overall cognition (exp(b)=0.725, p=0.026), language, verbal fluency and visuospatial scores, and MND-FTD (OR=7.57, 95% CI 1.55 to 46.87). A family history of neurotic disorders was associated with poorer language (exp(b)=0.362, p<0.001), visuospatial scores (exp(b)=0.625, p<0.009) and MND-FTD (OR=13.75, 95% CI 1.71 to 110.86).ConclusionNeuropsychiatric disorders in patients and their families are associated with cognitive and behavioural changes post-MND diagnosis, with many occurring independently of MND-FTD and C9orf72 status. These findings support an overlap between MND, frontotemporal dementia and neuropsychiatric disorders, particularly mood disorders.
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Johnson, Brian, Angela Kokkinis, Neville Gai, Ejaz A. Shamim, Craig Blackstone, Kenneth H. Fischbeck, and Christopher Grunseich. "Nonalcoholic Fatty Liver Disease in Patients with Inherited and Sporadic Motor Neuron Degeneration." Genes 13, no. 6 (May 24, 2022): 936. http://dx.doi.org/10.3390/genes13060936.
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We describe evidence of fatty liver disease in patients with forms of motor neuron degeneration with both genetic and sporadic etiology compared to controls. A group of 13 patients with motor neuron disease underwent liver imaging and laboratory analysis. The cohort included five patients with hereditary spastic paraplegia, four with sporadic amyotrophic lateral sclerosis (ALS), three with familial ALS, and one with primary lateral sclerosis. A genetic mutation was reported in nine of the thirteen motor neuron disease (MND) patients. Fatty liver disease was detected in 10 of 13 (77%) MND patients via magnetic resonance spectroscopy, with an average dome intrahepatic triacylglycerol content of 17% (range 2–63%, reference ≤5.5%). Liver ultrasound demonstrated evidence of fatty liver disease in 6 of the 13 (46%) patients, and serum liver function testing revealed significantly elevated alanine aminotransferase levels in MND patients compared to age-matched controls. Fatty liver disease may represent a non-neuronal clinical component of various forms of MND.
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Pearson, Iona, Stella A. Glasmacher, Judith Newton, Emily Beswick, Arpan R. Mehta, Richard Davenport, Siddharthan Chandran, and Suvankar Pal. "The Prevalence and Management of Saliva Problems in Motor Neuron Disease: A 4-Year Analysis of the Scottish Motor Neuron Disease Register." Neurodegenerative Diseases 20, no. 4 (2020): 147–52. http://dx.doi.org/10.1159/000514615.
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<b><i>Introduction:</i></b> Saliva problems are common and distressing for people with motor neuron disease (pwMND). Despite clinical guidelines for assessment and treatment, management of saliva problems has received little research attention. <b><i>Objective:</i></b> We aimed to investigate the prevalence of saliva problems in pwMND, their association with clinical factors, and their management practice using a highly curated population-based register for motor neuron disease (MND) with 99% case ascertainment. <b><i>Methods:</i></b> We conducted an analysis of pwMND diagnosed between January 2015 and October 2019 using the Scottish MND Register (CARE-MND [Clinical, Audit, Research, and Evaluation of MND]). The association between clinical factors and saliva problems was investigated using univariate and multivariable logistic regression; results are reported as odds ratio (OR) and 95% confidence intervals. A survey of health-care professionals involved in the care of pwMND was performed to contextualize the findings. <b><i>Results:</i></b> 939 pwMND were included. Prevalence of saliva problems was 31.3% (294). Bulbar onset (OR 9.46 [4.7, 19.2]; <i>p</i> < 0.001) but not age, sex, time to diagnosis, or MND subtype were independently associated with the presence of saliva problems in multivariable regression, and 52.7% (155) of those with saliva problems received pharmacological management. The most commonly used medications were hyoscine, amitriptyline, carbocisteine, glycopyrrolate, and atropine. Evidence base (8, 72.7%) and local guidelines (10, 90.9%) were cited as the most important factors influencing treatment decision by survey respondents (<i>n</i> = 11). <b><i>Conclusion:</i></b> Saliva problems are common and associated with bulbar onset MND. A substantial proportion of pwMND with saliva problems did not receive recommended treatments. Future research is required to determine the relative efficacy of individual pharmacological treatments.
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Achsel, Tilmann, Silvia Barabino, Mauro Cozzolino, and Maria Teresa Carrì. "The intriguing case of motor neuron disease: ALS and SMA come closer." Biochemical Society Transactions 41, no. 6 (November 20, 2013): 1593–97. http://dx.doi.org/10.1042/bst20130142.
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MNDs (motor neuron diseases) form a heterogeneous group of pathologies characterized by the progressive degeneration of motor neurons. More and more genetic factors associated with MND encode proteins that have a function in RNA metabolism, suggesting that disturbed RNA metabolism could be a common underlying problem in several, perhaps all, forms of MND. In the present paper we review recent developments showing a functional link between SMN (survival of motor neuron), the causative factor of SMA (spinal muscular atrophy), and FUS (fused in sarcoma), a genetic factor in ALS (amyotrophic lateral sclerosis). SMN is long known to have a crucial role in the biogenesis and localization of the spliceosomal snRNPs (small nuclear ribonucleoproteins), which are essential assembly modules of the splicing machinery. Now we know that FUS interacts with SMN and pathogenic FUS mutations have a significant effect on snRNP localization. Together with other recently published evidence, this finding potentially links ALS pathogenesis to disturbances in the splicing machinery, and implies that pre-mRNA splicing may be the common weak point in MND, although other steps in mRNA metabolism could also play a role. Certainly, further comparison of the RNA metabolism in different MND will greatly help our understanding of the molecular causes of these devastating diseases.
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Ahmadzai, Pasarlai, Sofiane Kab, Tim Vlaar, Fanny Artaud, Laure Carcaillon-Bentata, Marianne Canonico, Frédéric Moisan, and Alexis Elbaz. "Age-dependent sex ratios of motor neuron disease." Neurology 90, no. 18 (March 30, 2018): e1588-e1595. http://dx.doi.org/10.1212/wnl.0000000000005459.
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ObjectiveTo examine the relation of age with male-to-female (M/F) ratios and incidence rates of motor neuron disease (MND) in a French nationwide study and meta-analysis of incidence studies.MethodsWe used data from the French National Health Insurance databases. Patients with incident MND (2010–2014) were identified based on drug claims (riluzole), hospitalization records, death records, and long-term chronic disease benefits. We estimated age-specific M/F incidence ratios using Poisson regression. Poisson, Gompertz, and multistep models were used to model the relation between age and incidence. We performed a meta-analysis (n = 28 studies) and used meta-regression to examine the relation of age with incidence rates and ratios.ResultsIn France, we identified 10,848 patients with incident MND (6,021 men, 4,827 women). Incidence was higher in men than in women in all age groups. M/F ratios were significantly different across age groups and followed a quadratic trend (p < 0.001). Between 20 and 49 years, the average M/F ratio was 2.26 (95% confidence interval [CI] = 1.96–2.62); it was 1.41 (95% CI = 1.35–1.47) between 50 and 84 years, and 1.88 (95% CI = 1.64–2.17) after 85 years. Incidence was lower in women than men at younger ages, but increased more steeply in women than men. Similar patterns were observed in the meta-analysis of incidence studies, especially in 19 higher-quality studies.ConclusionThe relation between age and M/F incidence ratios of MND follows a quadratic U-shaped pattern with an abrupt drop after the fifth decade. The change in M/F ratios before and after menopause suggests that reproductive/hormonal protective factors have a role in women and should prompt further studies to explore this hypothesis.
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Huynh, William, Lara E. Sharplin, Jashelle Caga, Elizabeth Highton-Williamson, and Matthew C. Kiernan. "042 Respiratory function and cognitive profile in motor neuron disease." Journal of Neurology, Neurosurgery & Psychiatry 90, e7 (July 2019): A14.2—A14. http://dx.doi.org/10.1136/jnnp-2019-anzan.38.
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IntroductionMotor neuron disease (MND) is increasingly recognised as a multisystems disorder with 30–50% of patients having mild to moderate cognitive impairment. Mechanisms of cognitive dysfunction in MND are multifactorial but chronic hypoxia secondary to respiratory dysfunction may contribute to cognitive decline in patients.ObjectivesThe current study aimed to identify the relationship between respiratory function in MND patients and the presence and degree of cognitive impairment.MethodsMND patients were prospectively recruited from a multidisciplinary MND clinic. Patients meeting the criteria for frontotemporal dementia were excluded. Baseline clinical assessments including respiratory function as assessed by spirometry were recorded with FVC ≤ 75% considered to have reduced respiratory function. Cognitive testing was performed utilising the Addenbrooke’s Cognitive Examination (ACE).ResultsFrom a cohort of 100 MND patients 48% were categorised as having impaired respiratory function whilst 52% had normal function. Compared to the group with normal respiratory function (ACE: 86.83±1.5), patients with respiratory dysfunction had significantly reduced cognitive function (ACE: 90.68±0.89, P=0.025). Subscores demonstrated significant differences between the groups with respect to domains in memory, attention with a trend observed in fluency. There was a significant correlation between FVC and ACE scores as well as between FVC and memory and fluency subscores (P<0.01).ConclusionMND patients with respiratory compromise were more likely to develop reduced cognitive function. In addition to improving physical function, it remains plausible that non-invasive ventilation may alter the progression of cognitive impairment in MND patients, thereby potentially improving their overall quality of life and carer burden.
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Long, Zhe (Jill), Muireann Irish, David Foxe, John Hodges, Olivier Piguet, and James Burrell. "016 One disease or three: is frontotemporal dementia – motor neuron disease a distinct entity?" Journal of Neurology, Neurosurgery & Psychiatry 90, e7 (July 2019): A6.2—A6. http://dx.doi.org/10.1136/jnnp-2019-anzan.16.
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IntroductionFrontotemporal dementia-motor neuron disease (FTD-MND) is diagnosed when patients meet criteria for the diagnosis of both FTD and MND, but the mode presentation of this disorder is currently unknown. This study aimed to compare the mode of presentation, and profiles of behavioural and language disturbances, of FTD-MND with that of other FTD phenotypes using a data-driven approach.Methods31 FTD-MND, 119 bvFTD, 47 PNFA, 42 SD patients and 127 controls underwent comprehensive clinical, neuropsychological and neuroimaging assessments. Z-transformed scores were used to compare the severity of behavioural and language domains in each disease group. Two-step cluster analysis profiled patient subgroups. Voxel-based morphometry investigated differential patterns of cortical atrophy between groups.ResultsOverall, FTD-MND patients presented with behavioural or language disturbances less frequently than FTD phenotypes, but mixed behavioural-language presentations were more common. FTD-MND patients demonstrated less severe disinhibition, apathy and semantic deficits relative to bvFTD and SD respectively.Behavioural and language deficits were of comparable severity in FTD-MND, unlike other FTD phenotypes where behaviour was worse than language (bvFTD) or language worse than behaviour (PNFA, SD).In cluster analysis, FTD-MND patients were evenly distributed across three subgroups designated as ‘mild mixed’, ‘language dominant’ and ‘behavioural dominant’. Relative to the ‘mild mixed’ group, ‘language dominant’ patients demonstarted more atrophy of the anterior temporal lobe and peri-insular regions, while ‘behavioural dominant’ patients displayed more prefrontal atrophy.ConclusionFTD-MND does not present as a uniform syndrome. Rather, there may be at least three subgroups that demonstrate distinctive cognitive, behavioural, and neuroanatomical characteristics.
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Coppedè, Fabio. "An Overview of DNA Repair in Amyotrophic Lateral Sclerosis." Scientific World JOURNAL 11 (2011): 1679–91. http://dx.doi.org/10.1100/2011/853474.
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Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is an adult onset neurodegenerative disorder characterised by the degeneration of cortical and spinal cord motor neurons, resulting in progressive muscular weakness and death. Increasing evidence supports mitochondrial dysfunction and oxidative DNA damage in ALS motor neurons. Several DNA repair enzymes are activated following DNA damage to restore genome integrity, and impairments in DNA repair capabilities could contribute to motor neuron degeneration. After a brief description of the evidence of DNA damage in ALS, this paper focuses on the available data on DNA repair activity in ALS neuronal tissue and disease animal models. Moreover, biochemical and genetic data on DNA repair in ALS are discussed in light of similar findings in other neurodegenerative diseases.
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Sharma, Shubham, and Nidhi Chauhan. "Motor Neuron Disease: A Case Report with Review of Literature." International Academic Research Journal of Internal Medicine and Public Health 3, no. 03 (June 30, 2022): 20–21. http://dx.doi.org/10.47310/iarjimph.2022.v03i03.005.
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Motor neurone disease (MND) is an uncommon neurodegenerative disease that affects the brain and nerves. It causes weakness that gets worse over time. There's no cure for MND, but there are treatments to help reduce the impact it has on a person's daily life.
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de Jongh, Adriaan D., Ruben P. A. van Eijk, Susan M. Peters, Michael A. van Es, Anja M. C. Horemans, Anneke J. van der Kooi, Nicol C. Voermans, Roel C. H. Vermeulen, Jan H. Veldink, and Leonard H. van den Berg. "Incidence, Prevalence, and Geographical Clustering of Motor Neuron Disease in the Netherlands." Neurology 96, no. 8 (January 20, 2021): e1227-e1236. http://dx.doi.org/10.1212/wnl.0000000000011467.
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ObjectiveTo assess time trends in motor neuron disease (MND) incidence, prevalence, and mortality and to investigate geographic clustering of MND cases in the Netherlands from 1998 to 2017, we analyzed data from the Netherlands Personal Records database, the Netherlands MND Center, and the Netherlands Patient Association of Neuromuscular Diseases.MethodsIn this prospective cohort study, Poisson regression was used to assess time trends in MND risk. We calculated age- and sex-standardized, observed, and expected cases for 1,694 areas. Bayesian smoothed risk mapping was used to investigate geographic MND risk.ResultsWe identified 7,992 MND cases, reflecting an incidence of 2.64 (95% confidence interval [CI] 2.62–2.67) per 100,000 person-years and a prevalence of 9.5 (95% CI 9.1–10.0) per 100,000 persons. Highest age-standardized prevalence and mortality rates occurred at a later age in men than in women (p < 0.001). Unadjusted mortality rates increased by 53.2% from 2.57 per 100,000 person-years in 1998 to 3.86 per 100,000 person-years in 2017. After adjustment for age and sex, an increase in MND mortality rate of 14.1% (95% CI 5.7%–23.2%, p < 0.001) remained. MND relative risk ranged from 0.78 to 1.43 between geographic areas; multiple urban and rural high-risk areas were identified.ConclusionsWe found a significant national increase in MND mortality from 1998 through 2017, explained only partly by an aging Dutch population, and a geographic variability in MND risk, suggesting a role for environmental or demographic risk factors.
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Pinto, Wladimir B. V. R., Igor Braga Farias, Bruno de Mattos Lombardi Badia, Luiz Henrique Libardi Silva, Mario Teruo Yanagiura, Marco Antônio Troccoli Chieia, Paulo Victor Sgobbi de Souza, and Acary Souza Bulle Oliveira. "Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND)." Practical Neurology 19, no. 5 (April 24, 2019): 424–26. http://dx.doi.org/10.1136/practneurol-2018-002188.
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Atypical motor neurone disease (MND) represents a challenging and expanding group of neurodegenerative disorders involving the upper or lower motor neurones, and rarely both. Neuro-ophthalmological disturbances such as gaze-evoked downbeat nystagmus are extremely rare in the context of typical and atypical MND. Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND) syndrome has been recently recognised as a distinct syndromic phenotype of MND, with a characteristic clinical picture. We describe a 63-year-old woman with long-standing lower motor neurone involvement of the upper limbs, who on examination had gaze-evoked downbeat nystagmus. After extensive negative investigation for secondary causes of MND and downbeat nystagmus, we diagnosed FEWDON-MND syndrome.
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Walsh, Laura J., and Desmond M. Murphy. "The Benefit of Non-invasive Ventilation in Motor Neuron Disease." Open Respiratory Medicine Journal 14, no. 1 (December 15, 2020): 53–61. http://dx.doi.org/10.2174/1874306402014010053.
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Background: Motor Neuron Disease (MND) is a progressive neurodegenerative disorder leading to respiratory muscle weakness with dyspnoea, morning headaches, orthopnoea, poor concentration, unrefreshing sleep, fatigue and daytime somnolence. Respiratory failure is the primary cause of death in those with MND. Methods: Although guidelines suggest the use of non-invasive ventilation (NIV) in MND, there lacks clear guidance as to when is the optimal time to initiate NIV and which markers of respiratory muscle decline are the best predictors of prognosis. There have been a number of studies that have found a significant survival advantage to the use of NIV in MND. Similarly, in quality-of-life questionnaires, those treated with NIV tend to perform better and maintain a better quality of life for longer. Furthermore, studies also suggest that improved compliance and greater tolerance of NIV confer a survival advantage. Results and Discussion: Forced Vital Capacity (FVC) has traditionally been the main pulmonary function test to determine the respiratory function in those with MND; however, FVC may not be entirely reflective of early respiratory muscle dysfunction. Evidence suggests that sniff nasal inspiratory pressure and maximum mouth inspiratory pressure may be better indicators of early respiratory muscle decline. These measures have been shown to be easier to perform later in the disease, in patients with bulbar onset disease, and may indeed be better prognostic indicators. Conclusion: Despite ongoing research, there remains a paucity of randomised controlled data in this area. This review aims to summarise the evidence to date on these topics.
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Gkiouleka, Anna, Alison Manning, Dianna Smith, Andrea Malaspina, and Valentina Gallo. "Charity financial support to motor neuron disease (MND) patients in Greater London: the impact of patients’ socioeconomic status—a cross-sectional study." BMJ Open 9, no. 2 (February 2019): e022462. http://dx.doi.org/10.1136/bmjopen-2018-022462.
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ObjectiveThere is an immense socioeconomic burden for both the patients with motor neuron disease (MND) and their families. The aim of this study is to evaluate the extent to which the provision offered by the Motor Neurone Disease Association is distributed among patients with MND living in the ethnically and socially diverse area of Greater London, according to the patients’ socioeconomic situation and needs.SettingGreater London, where age and sex-adjusted prevalence rates of MND in 2016 were calculated.ParticipantsPrevalent MND cases in Greater London, using anonymised data extracted from the Association’s database.ExposureDemographic and socioeconomic characteristicsPrimary and secondary outcome measuresReceiving a Motor Neurone Disease Association grant, and the amount of money received.Results396 individuals with amyotrophic lateral sclerosis were detected, the age-specific and sex-specific prevalence of MND was 4.02 per 100 000 inhabitants, higher among men (5.13 per 100 000) than women (3.01 per 100 000). Men were statistically significantly 40% less likely to receive a grant compared with women; among grant recipients, the younger the age of the participant, the higher the size of the grant received. The Index of Multiple Deprivation was not associated with either receiving a grant nor the amount of money received, among recipients.ConclusionFinancial support by the Motor Neurone Disease Association is provided across individuals and across boroughs regardless of their socioeconomic circumstances. Differences that benefits women and younger patients were detected.
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Messer, Ben, Alison Armstrong, Thomas Doris, and Tim Williams. "Requested withdrawal of mechanical ventilation in six patients with motor neuron disease." BMJ Supportive & Palliative Care 10, no. 1 (April 3, 2019): 10–13. http://dx.doi.org/10.1136/bmjspcare-2017-001464.
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ObjectivesMechanical ventilation (MV) has been shown to improve survival and quality of life in motor neuron disease (MND). However, during the progression of MND, there may come a point when MV is no longer felt appropriate. Association of Palliative Medicine Guidelines have been recently published to help clinicians withdraw MV at the request of patients with MND in a safe and compassionate manner to ensure that symptoms of distress and dyspnoea are minimised.MethodsIn this report, we discuss the palliative and ventilatory management of six ventilator-dependent patients with MND who had requested the withdrawal of MV as part of their end-of-life care.ResultsWe have withdrawn MV from six patients with MND at their request and our practice has been influenced by the Association of Palliative Medicine Guidelines.ConclusionWithdrawal of MV in MND at a patient’s request is challenging but is also a fundamental responsibility of healthcare teams. We discuss the lessons we have learnt which will influence our practice and help other teams in the future.
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Chervyakov, A., I. Bakulin, N. Savitskaya, M. Zakharova, and M. Piradov. "Navigated transcranial magnetic stimulation in Motor Neuron Disease (MND)." Journal of the Neurological Sciences 333 (October 2013): e462. http://dx.doi.org/10.1016/j.jns.2013.07.1646.
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Quansah, Emmanuel, and Thomas K. Karikari. "Motor Neuron Diseases in Sub-Saharan Africa: The Need for More Population-Based Studies." BioMed Research International 2015 (2015): 1–9. http://dx.doi.org/10.1155/2015/298409.
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Motor neuron diseases (MNDs) are devastating neurological diseases that are characterised by gradual degeneration and death of motor neurons. Major types of MNDs include amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). These diseases are incurable, with limited disease-modifying treatment options. In order to improve MND-based biomedical research, drug development, and clinical care, population-based studies will be important. These studies, especially among less-studied populations, might identify novel factors controlling disease susceptibility and resistance. To evaluate progress in MND research in Africa, we examined the published literature on MNDs in Sub-Saharan Africa to identify disease prevalence, genetic factors, and other risk factors. Our findings indicate that the amount of research evidence on MNDs in Sub-Saharan Africa is scanty; molecular and genetics-based studies are particularly lacking. While only a few genetic studies were identified, these studies strongly suggest that there appear to be population-specific causes of MNDs among Africans. MND genetic underpinnings vary among different African populations and also between African and non-African populations. Further studies, especially molecular, genetic and genomic studies, will be required to advance our understanding of MND biology among African populations. Insights from these studies would help to improve the timeliness and accuracy of clinical diagnosis and treatment.
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Rocha, Antonio José da, Renato Hoffmann Nunes, and Antonio Carlos Martins Maia Jr. "Dementia in motor neuron disease: reviewing the role of MRI in diagnosis." Dementia & Neuropsychologia 9, no. 4 (December 2015): 369–79. http://dx.doi.org/10.1590/1980-57642015dn94000369.
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ABSTRACT The superimposed clinical features of motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a distinct, yet not fully understood, neurological overlap syndrome whose clinicopathological basis has recently been reviewed. Here, we present a review of the clinical, pathological and genetic basis of MND-FTD and the role of MRI in its diagnosis. In doing so, we discuss current techniques that depict the involvement of the selective corticospinal tract (CST) and temporal lobe in MND-FTD.
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Brandão, Bárbara Carolina, Magali Aparecida Orate Menezes da Silva, Paula Cristina Cola, and Roberta Gonçalves da Silva. "Relationship between oral transit time and functional performance in motor neuron disease." Arquivos de Neuro-Psiquiatria 77, no. 8 (August 2019): 542–49. http://dx.doi.org/10.1590/0004-282x20190077.
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ABSTRACT Oral phase swallowing impairment in motor neuron disease (MND) is caused by tongue weakness, fasciculation and atrophy, which may compromise oral transit time and total feeding time. Objective: To describe and correlate total oral transit time (TOTT) with functional performance in MND using different food consistencies. Methods: The study was conducted on 20 patients with MND, regardless of type or duration of the disease, of whom nine were excluded due to issues on the videofluoroscopic swallowing images. The remaining 11 patients (nine men and two women) ranged from 31 to 87 years of age (mean: 57 years) with scores on the Penetration Aspiration Scale ranging from ≤ 2 to ≤ 4. The Amyotrophic Lateral Sclerosis Functional Rating Scale - revised questionnaire was applied to classify individuals according to global, bulbar and bulbar/respiratory parameters. Videofluoroscopy of swallowing using 5ml of different consistencies was performed and a quantitative temporal analysis of the TOTT was carried out with the aid of specific software. Results: There was a wide variation in the TOTT within the same food consistency among MND patients. There was a correlation between the TOTT and overall functional performance for the thickened liquid consistency (r = −0.691) and between the TOTT and bulbar performance for the pureed consistency (r = −0.859). Conclusion: Total oral transit time in MND varies within the same food consistency and the longer the TOTT, regardless of food consistency, the lower the functional performance in MND.
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Rickman, Olivia J., Emma L. Baple, and Andrew H. Crosby. "Lipid metabolic pathways converge in motor neuron degenerative diseases." Brain 143, no. 4 (December 18, 2019): 1073–87. http://dx.doi.org/10.1093/brain/awz382.
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Abstract Motor neuron diseases (MNDs) encompass an extensive and heterogeneous group of upper and/or lower motor neuron degenerative disorders, in which the particular clinical outcomes stem from the specific neuronal component involved in each condition. While mutations in a large number of molecules associated with lipid metabolism are known to be implicated in MNDs, there remains a lack of clarity regarding the key functional pathways involved, and their inter-relationships. This review highlights evidence that defines defects within two specific lipid (cholesterol/oxysterol and phosphatidylethanolamine) biosynthetic cascades as being centrally involved in MND, particularly hereditary spastic paraplegia. We also identify how other MND-associated molecules may impact these cascades, in particular through impaired organellar interfacing, to propose ‘subcellular lipidome imbalance’ as a likely common pathomolecular theme in MND. Further exploration of this mechanism has the potential to identify new therapeutic targets and management strategies for modulation of disease progression in hereditary spastic paraplegias and other MNDs.
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Jenkins, Thomas M., James J. P. Alix, Jacob Fingret, Taniya Esmail, Nigel Hoggard, Kathleen Baster, Christopher J. McDermott, Iain D. Wilkinson, and Pamela J. Shaw. "Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease." Journal of Neurology 267, no. 1 (October 17, 2019): 244–56. http://dx.doi.org/10.1007/s00415-019-09580-x.
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Abstract Background Clinical phenotypic heterogeneity represents a major barrier to trials in motor neuron disease (MND) and objective surrogate outcome measures are required, especially for slowly progressive patients. We assessed responsiveness of clinical, electrophysiological and radiological muscle-based assessments to detect MND-related progression. Materials and methods A prospective, longitudinal cohort study of 29 MND patients and 22 healthy controls was performed. Clinical measures, electrophysiological motor unit number index/size (MUNIX/MUSIX) and relative T2- and diffusion-weighted whole-body muscle magnetic resonance (MR) were assessed three times over 12 months. Multi-variable regression models assessed between-group differences, clinico-electrophysiological associations, and longitudinal changes. Standardized response means (SRMs) assessed sensitivity to change over 12 months. Results MND patients exhibited 18% higher whole-body mean muscle relative T2-signal than controls (95% CI 7–29%, p < 0.01), maximal in leg muscles (left tibialis anterior 71% (95% CI 33–122%, p < 0.01). Clinical and electrophysiological associations were evident. By 12 months, 16 patients had died or could not continue. In the remainder, relative T2-signal increased over 12 months by 14–29% in right tibialis anterior, right quadriceps, bilateral hamstrings and gastrocnemius/soleus (p < 0.01), independent of onset-site, and paralleled progressive weakness and electrophysiological loss of motor units. Highest clinical, electrophysiological and radiological SRMs were found for revised ALS-functional rating scale scores (1.22), tibialis anterior MUNIX (1.59), and relative T2-weighted leg muscle MR (right hamstrings: 0.98), respectively. Diffusion MR detected minimal changes. Conclusion MUNIX and relative T2-weighted MR represent objective surrogate markers of progressive denervation in MND. Radiological changes were maximal in leg muscles, irrespective of clinical onset-site.
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Chapman, Laura, Stephanie Shepheard, Nick Verber, Martin Turner, Andrea Malaspina, Mary-Louise Rogers, and Pamela Shaw. "171 Urinary P75: a novel biomarker for motor neuron disease?" Journal of Neurology, Neurosurgery & Psychiatry 93, no. 9 (August 12, 2022): e2.130. http://dx.doi.org/10.1136/jnnp-2022-abn2.215.
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Motor neuron disease (MND is a progressive and fatal disease. The urinary neurotrophin receptor p75 extracellular domain (p75ECD) has previously been reported as a potential disease biomarker.This study measured urinary p75ECD using an enzyme-linked immunoassay and normalised the results against urinary creatinine. Participants were recruited via the Multicentre Biomarker Resource Strategy in ALS (AMBroSIA) programme. Study participants included 97 MND patients, 24 of whom were studied longitudinally, and 27 healthy controls. The longitudinal changes in disease severity and survival in com- parison to urinary p75ECD were examined using mixed-model analysis on SPSS.Confirming previous findings, urinary p75ECD levels were significantly higher in patients with MND (median 6.78ng/mg) compared to controls (4.57ng/mg) at first study visit (p=0.013). There was a significant negative correlation between ALSFRS-R rating and p75ECD levels (p=<0.001), indicating that an increase in the severity of motor neuron injury correlated with an increase in p75ECD levels. There was a significant increase in p75ECD between first and second samples in the same participants, indicating an increase in the level of this biomarker longitudinally during the disease course (p=0.011).Urinary p75ECD is a strong candidate as a biomarker which increases with disease progression, and which has potential as a pharmacodynamic biomarker.
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Islam, Dr S. M. Shahidul, Sabina Yasmin, and Dr Huihui Li. "Motor Neuron Disease (MND) Treatment through Acupuncture: My Experience at Suo Xi Hospital in Bangladesh." Global Academic Journal of Medical Sciences 4, no. 3 (June 14, 2022): 148–51. http://dx.doi.org/10.36348/gajms.2022.v04i03.006.
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Motor neuron disease (MND), often known as amyotrophic lateral sclerosis, is a degenerative neurological illness for which there is no recognized cause (ALS). Increased muscular weakening and bulbar dysfunction lead to respiratory failure, which is the most common cause of mortality [1]. It may be difficult to establish the diagnosis until all of the clinical signs and symptoms are present. One should always get a professional neurology opinion for all types of ailments since there is a wide differential diagnosis to consider, including treatable conditions. Though it is possible that only a small percentage of people with familial ALS can be shown to have an inherited gene disorder, research into the molecular basis of genetic subgroups is yielding vital discoveries that might one day lead to medications for those with sporadic cases [2]. A multidisciplinary team provides supportive care in the absence of a cure or treatment that may alter the course of the illness. Motor neuron illness may be caused by a combination of genetic and environmental factors, and future treatment may involve a combination of molecular medications and stem cell transplantation. A progressive degenerative disease, such as MND or ALS, has no known cause in the patients who suffer from it. When examining the differential diagnosis of motor neuron illnesses, it is necessary to consider the relative involvement of upper and lower motor neurons.
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Cortés-Vicente, Elena, Janina Turon-Sans, Ellen Gelpi, Jordi Clarimón, Sergi Borrego-Écija, Oriol Dols-Icardo, Ignacio Illán-Gala, et al. "Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia." Dementia and Geriatric Cognitive Disorders 45, no. 3-4 (2018): 220–31. http://dx.doi.org/10.1159/000488528.
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Aim: To determine the motor phenotype and outcome in a clinically ascertained group of patients with motor neuron disease (MND) and frontotemporal dementia (FTD). Methods: This is an observational retrospective clinical study of patients fulfilling the clinical criteria for MND-FTD. A contemporary series of patients with amyotrophic lateral sclerosis (ALS) without dementia were included for comparison. Demographic, clinical, genetic, and neuropathological data were collected. A descriptive and comparative data analysis was performed. Results: We identified 22 patients with MND-FTD. Selective distal upper limb muscle weakness and atrophy with non-significant lower limb weakness during follow-up was the most frequent motor pattern, present in 18 patients – in 15 of them associated with severe dysphagia. Aspiration pneumonia was the most common cause of death (12/19; 63%) despite gastrostomy. One-third of the patients did not develop upper motor neuron dysfunction. When compared to classic ALS without dementia (n = 162), these features were significantly different. A neuropathological examination was performed on 7 patients, and it confirmed the presence of MND with TDP43 protein aggregates in all patients. Conclusions: The MND-FTD patients frequently displayed a distinctive motor pattern characterized by weakness and atrophy in distal upper limb muscles and dysphagia, with no or little spreading to other regions. These features may help to define specific subgroups of patients, which is important with regard to clinical management, outcome, and research.
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Davis, David A., Paul Alan Cox, Sandra Anne Banack, Patricia D. Lecusay, Susanna P. Garamszegi, Matthew J. Hagan, James T. Powell, et al. "l-Serine Reduces Spinal Cord Pathology in a Vervet Model of Preclinical ALS/MND." Journal of Neuropathology & Experimental Neurology 79, no. 4 (January 21, 2020): 393–406. http://dx.doi.org/10.1093/jnen/nlaa002.
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Abstract The early neuropathological features of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) are protein aggregates in motor neurons and microglial activation. Similar pathology characterizes Guamanian ALS/Parkinsonism dementia complex, which may be triggered by the cyanotoxin β-N-methylamino-l-alanine (BMAA). We report here the occurrence of ALS/MND-type pathological changes in vervets (Chlorocebus sabaeus; n = 8) fed oral doses of a dry powder of BMAA HCl salt (210 mg/kg/day) for 140 days. Spinal cords and brains from toxin-exposed vervets were compared to controls fed rice flour (210 mg/kg/day) and to vervets coadministered equal amounts of BMAA and l-serine (210 mg/kg/day). Immunohistochemistry and quantitative image analysis were used to examine markers of ALS/MND and glial activation. UHPLC-MS/MS was used to confirm BMAA exposures in dosed vervets. Motor neuron degeneration was demonstrated in BMAA-dosed vervets by TDP-43+ proteinopathy in anterior horn cells, by reactive astrogliosis, by activated microglia, and by damage to myelinated axons in the lateral corticospinal tracts. Vervets dosed with BMAA + l-serine displayed reduced neuropathological changes. This study demonstrates that chronic dietary exposure to BMAA causes ALS/MND-type pathological changes in the vervet and coadministration of l-serine reduces the amount of reactive gliosis and the number of protein inclusions in motor neurons.
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Turner, Martin R., Christina Faull, Christopher J. McDermott, Annabel H. Nickol, Jonathan Palmer, and Kevin Talbot. "Tracheostomy in motor neurone disease." Practical Neurology 19, no. 6 (July 4, 2019): 467–75. http://dx.doi.org/10.1136/practneurol-2018-002109.
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Tracheostomy-associated ventilation for the respiratory insufficiency caused by amyotrophic lateral sclerosis (motor neurone disease (MND)) is a complex issue with practical, ethical and economic dimensions. This article considers the current prevalence of tracheostomy in MND, the evidence for its benefit both for survival and quality of life, and the practicalities of its implementation. The decision to request invasive ventilatory support is among the most challenging for those living with MND. Neurologists should be prepared to discuss this option openly and objectively: we suggest a framework for discussion, including withdrawal of therapy.
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Aitchison, Chris, Charles Romanowski, Alexander Barker, and Thomas Jenkins. "Motor neuron disease mimics in practice: a case series." BMJ Case Reports 15, no. 7 (July 2022): e247441. http://dx.doi.org/10.1136/bcr-2021-247441.
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In the majority of cases of motor neuron disease (MND), diagnosis is clinical and unambiguous. However, given the gravity of the diagnosis, it is crucial that treatable mimics are differentiated accurately. We present three cases referred to our clinic with possible MND with unusual features that led to an alternative diagnosis. (1) A middle-aged man with swallowing, then speech problems and foot drop. Tongue movements were slow and electromyography (EMG) showed fibrillations/positive sharp waves. Following investigation, a tonsillar tumour involving the tongue root was identified, and the foot drop improved, suggesting unrelated common peroneal nerve palsy (related to weight loss) or lumbar radiculopathy. (2) An elderly man presenting with progressive unilateral leg weakness and localised fasciculations on EMG. Following investigation, a high-grade brain glioma was diagnosed. (3) An elderly woman presenting with progressive quadriparesis over 18 months with fibrillations and chronic denervation on EMG. Symmetrical weakness and short duration response to immunotherapy led to further serological investigation and a diagnosis of anti-GD1a motor neuropathy. She was treated successfully with intravenous immunoglobulin, cyclophosphamide and rituximab and is now in remission.
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Urso, Daniele, Stefano Zoccolella, Valentina Gnoni, and Giancarlo Logroscino. "Amyotrophic Lateral Sclerosis—The Complex Phenotype—From an Epidemiological Perspective: A Focus on Extrapyramidal and Non-Motor Features." Biomedicines 10, no. 10 (October 11, 2022): 2537. http://dx.doi.org/10.3390/biomedicines10102537.
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Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease (MND) and has emerged, among the disorders, with the largest increase in incidence in Western countries. Although the typical clinical phenotype of ALS involves simultaneous upper and lower motor neurons, there is growing evidence that the neurodegeneration during the course of the disease can also involve other motor and non-motor regions. In this review, we analyzed and discussed available data from epidemiological population-based studies on extrapyramidal and non-motor features during the course of ALS.
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RG, Miller, Mitchell JD, Lyon M, and Moore DH. "Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND)." Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders 4, no. 3 (September 2003): 191–206. http://dx.doi.org/10.1080/14660820310002601.
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Jenkins, Thomas M., James J. P. Alix, Charlotte David, Eilish Pearson, D. Ganesh Rao, Nigel Hoggard, Eoghan O’Brien, et al. "Imaging muscle as a potential biomarker of denervation in motor neuron disease." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 3 (October 31, 2017): 248–55. http://dx.doi.org/10.1136/jnnp-2017-316744.
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ObjectiveTo assess clinical, electrophysiological and whole-body muscle MRI measurements of progression in patients with motor neuron disease (MND), as tools for future clinical trials, and to probe pathophysiological mechanisms in vivo.MethodsA prospective, longitudinal, observational, clinicoelectrophysiological and radiological cohort study was performed. Twenty-nine patients with MND and 22 age-matched and gender-matched healthy controls were assessed with clinical measures, electrophysiological motor unit number index (MUNIX) and T2-weighted whole-body muscle MRI, at first clinical presentation and 4 months later. Between-group differences and associations were assessed using age-adjusted and gender-adjusted multivariable regression models. Within-subject longitudinal changes were assessed using paired t-tests. Patterns of disease spread were modelled using mixed-effects multivariable regression, assessing associations between muscle relative T2 signal and anatomical adjacency to site of clinical onset.ResultsPatients with MND had 30% higher relative T2 muscle signal than controls at baseline (all regions mean, 95% CI 15% to 45%, p<0.001). Higher T2 signal was associated with greater overall disability (coefficient −0.009, 95% CI −0.017 to –0.001, p=0.023) and with clinical weakness and lower MUNIX in multiple individual muscles. Relative T2 signal in bilateral tibialis anterior increased over 4 months in patients with MND (right: 10.2%, 95% CI 2.0% to 18.4%, p=0.017; left: 14.1%, 95% CI 3.4% to 24.9%, p=0.013). Anatomically, contiguous disease spread on MRI was not apparent in this model.ConclusionsWhole-body muscle MRI offers a new approach to objective assessment of denervation over short timescales in MND and enables investigation of patterns of disease spread in vivo. Muscles inaccessible to conventional clinical and electrophysiological assessment may be investigated using this methodology.
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Sánchez-Díaz, Germán, Francisco Escobar, Hannah Badland, Greta Arias-Merino, Manuel Posada de la Paz, and Verónica Alonso-Ferreira. "Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain." International Journal of Environmental Research and Public Health 15, no. 11 (November 11, 2018): 2522. http://dx.doi.org/10.3390/ijerph15112522.
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The etiology of motor neuron disease (MND) is still unknown. The aims of this study were to: (1) analyze MND mortality at a fine-grained level; and (2) explore associations of MND and heavy metals released into Spanish river basins. MND deaths were extracted from the Spanish nationwide mortality registry (2007–2016). Standardized mortality ratios (SMRs) for MND were estimated at a municipal level. Sites that emitted quantities of heavy metals above the regulatory thresholds were obtained from the European Pollutant Release and Transfer Register database (2007–2015). The relative risks for non-exposed and exposed municipalities (considering a downstream 20 km river section) by type of heavy metal were analyzed using a log-linear model. SMRs were significantly higher in central and northern municipalities. SMRs were 1.14 (1.10–1.17) higher in areas exposed to heavy metals than in non-exposed areas: 0.95 (0.92–0.96). Considering the different metals, we found the following increased MND death risks in exposed areas: 20.9% higher risk for lead, 20.0% for zinc, 16.7% for arsenic, 15.7% for chromium, 15.4% for cadmium, 12.7% for copper, and 12.4% for mercury. This study provides associations between MND death risk and heavy metals in exposed municipalities. Further studies investigating heavy metal exposure are needed to progress in MND understanding.
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Kodavati, Manohar, Haibo Wang, and Muralidhar L. Hegde. "Altered Mitochondrial Dynamics in Motor Neuron Disease: An Emerging Perspective." Cells 9, no. 4 (April 24, 2020): 1065. http://dx.doi.org/10.3390/cells9041065.
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Mitochondria plays privotal role in diverse pathways that regulate cellular function and survival, and have emerged as a prime focus in aging and age-associated motor neuron diseases (MNDs), such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Accumulating evidence suggests that many amyloidogenic proteins, including MND-associated RNA/DNA-binding proteins fused in sarcoma (FUS) and TAR DNA binding protein (TDP)-43, are strongly linked to mitochondrial dysfunction. Animal model and patient studies have highlighted changes in mitochondrial structure, plasticity, replication/copy number, mitochondrial DNA instability, and altered membrane potential in several subsets of MNDs, and these observations are consistent with the evidence of increased excitotoxicity, induction of reactive oxygen species, and activation of intrinsic apoptotic pathways. Studies in MND rodent models also indicate that mitochondrial abnormalities begin prior to the clinical and pathological onset of the disease, suggesting a causal role of mitochondrial dysfunction. Our recent studies, which demonstrated the involvement of specific defects in DNA break-ligation mediated by DNA ligase 3 (LIG3) in FUS-associated ALS, raised a key question of its potential implication in mitochondrial DNA transactions because LIG3 is essential for both mitochondrial DNA replication and repair. This question, as well as how wild-type and mutant MND-associated factors affect mitochondria, remain to be elucidated. These new investigation avenues into the mechanistic role of mitochondrial dysfunction in MNDs are critical to identify therapeutic targets to alleviate mitochondrial toxicity and its consequences. In this article, we critically review recent advances in our understanding of mitochondrial dysfunction in diverse subgroups of MNDs and discuss challenges and future directions.
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Wilbourn, A. "FC10.3 Electrodiagnostic findings in focal motor neuron disease (MND), or Hirayama’s disease." Clinical Neurophysiology 117 (September 2006): 1–2. http://dx.doi.org/10.1016/j.clinph.2006.06.032.
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Emeryk-Szajewska, Barbara, and Jerzy Kopeć. "PS-54-4 Reorganization of motor units (MUS) in motor neuron disease (MND)." Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control 97, no. 4 (September 1995): S227. http://dx.doi.org/10.1016/0924-980x(95)93285-2.
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Zhang, Bin, Pang-hsien Tu, Farhad Abtahian, John Q. Trojanowski, and Virginia M. Y. Lee. "Neurofilaments and Orthograde Transport Are Reduced in Ventral Root Axons of Transgenic Mice that Express Human SOD1 with a G93A Mutation." Journal of Cell Biology 139, no. 5 (December 1, 1997): 1307–15. http://dx.doi.org/10.1083/jcb.139.5.1307.
Full textAbstract:
Mice engineered to express a transgene encoding a human Cu/Zn superoxide dismutase (SOD1) with a Gly93 → Ala (G93A) mutation found in patients who succumb to familial amyotrophic lateral sclerosis (FALS) develop a rapidly progressive and fatal motor neuron disease (MND) similar to amyotrophic lateral sclerosis (ALS). Hallmark ALS lesions such as fragmentation of the Golgi apparatus and neurofilament (NF)-rich inclusions in surviving spinal cord motor neurons as well as the selective degeneration of this population of neurons were also observed in these animals. Since the mechanism whereby mutations in SOD1 lead to MND remains enigmatic, we asked whether NF inclusions in motor neurons compromise axonal transport during the onset and progression of MND in a line of mice that contained ∼30% fewer copies of the transgene than the original G93A (Gurney et al., 1994). The onset of MND was delayed in these mice compared to the original G93A mice, but they developed the same neuropathologic abnormalities seen in the original G93A mice, albeit at a later time point with fewer vacuoles and more NF inclusions. Quantitative Western blot analyses showed a progressive decrease in the level of NF proteins in the L5 ventral roots of G93A mice and a concomitant reduction in axon caliber with the onset of motor weakness. By ∼200 d, both fast and slow axonal transports were impaired in the ventral roots of these mice coincidental with the appearance of NF inclusions and vacuoles in the axons and perikarya of vulnerable motor neurons. This is the first demonstration of impaired axonal transport in a mouse model of ALS, and we infer that similar impairments occur in authentic ALS. Based on the temporal correlation of these impairments with the onset of motor weakness and the appearance of NF inclusions and vacuoles in vulnerable motor neurons, the latter lesions may be the proximal cause of motor neuron dysfunction and degeneration in the G93A mice and in FALS patients with SOD1 mutations.
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Sleutjes, Boudewijn T. H. M., Inger Montfoort, Pieter A. van Doorn, Gerhard H. Visser, and Joleen H. Blok. "Diagnostic accuracy of electrically elicited multiplet discharges in patients with motor neuron disease." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 11 (December 24, 2014): 1234–39. http://dx.doi.org/10.1136/jnnp-2014-308589.
Full textAbstract:
ObjectiveTo determine and compare the diagnostic accuracy of electrically elicited multiplet discharges (MDs) and fasciculation potentials (FPs) in motor neuron disease (MND).MethodsPatients were eligible when they had MND in their differential diagnosis and were referred for electromyogram (EMG). Stimulated high-density surface EMG of the thenar muscles was performed on the same day as standard EMG examination. High-density recordings were analysed for presence of MDs and needle EMG of any muscle investigated in the cervical region for presence of FPs.ResultsOf the 61 patients enrolled in this diagnostic study, 24 patients were clinically diagnosed with amyotrophic lateral sclerosis (ALS) and 11 patients with progressive muscular atrophy (PMA). Another diagnosis was made in 26 patients. Sixteen patients in whom MDs were detected were diagnosed with either ALS (n=11) or PMA (n=5; sensitivity=47.1%, PPV=94.1%). MDs were detected in only one patient initially diagnosed with PMA, but in whom later on, multifocal motor neuropathy could not be excluded (specificity=96.2%). Electrically elicited MDs had a higher specificity than FPs (96.2% vs 53.9%, p<0.001, n=26) and lower sensitivity (47.1% vs 85.3%, p=0.002, n=34). When considering presence of MDs in MND as neurogenic EMG abnormality, lower motor neuron involvement of ≥1 EMG region increased from 50% to 73.5% (p=0.008, n=34).ConclusionsElectrically evoked MDs are highly specific for ALS and PMA and are an early sign of lower motor neuron dysfunction.
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Walsh, Laura J., Kevin F. Deasy, Fernando Gomez, Elizabeth O’Sullivan, Joseph Eustace, Aisling M. Ryan, and Desmond M. Murphy. "Use of non-invasive ventilation in motor neuron disease – a retrospective cohort analysis." Chronic Respiratory Disease 18 (January 2021): 147997312110638. http://dx.doi.org/10.1177/14799731211063886.
Full textAbstract:
Motor neuron disease (MND) is a neurodegenerative disorder which leads to progressive muscle weakness including respiratory muscle decline. The introduction of non-invasive ventilation (NIV) has been shown to improve quality of life, survival and slow the rate of pulmonary function decline. A retrospective chart analysis of patients who attended the MND clinic from 2014 to 2019 at a tertiary-referral, academic, teaching hospital was carried out to evaluate if NIV and greater compliance with NIV was associated with improved survival. 111 patients were included. The mean age at diagnosis was 63.8 years and 61.3% were males. 66.7% of our cohort used NIV and of this 66.7%, 44.1% were compliant. There was a significantly longer survival in those who used NIV ( p = 0.002) and in those who used NIV optimally ( p = 0.02) when both groups were compared to those who did not use NIV. In the bulbar MND group those who were compliant with NIV survived longer than who those who did not use NIV ( p = 0.001). We found a significantly longer survival with the use of NIV, the use of NIV optimally and with use of NIV in those with bulbar onset MND compared to those who did not use NIV.