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Статті в журналах з теми "Hereditary ataxia"

Автор: Grafiati

Опубліковано: 10 березня 2023

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1

Lee, Jun Ho, Jaeho Kang, Yeoung deok Seo, Jeong Ik Eun, Hyunyoung Hwang, Sungyeong Ryu, Junseok Jang, and Jinse Park. "A Familial Case Presented with Various Clinical Manifestations Caused by <i>OPA1</i> Mutation." Journal of the Korean Neurological Association 41, no. 1 (February 1, 2023): 60–63. http://dx.doi.org/10.17340/jkna.2023.1.11.

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Анотація:

Ataxia is presented by various etiologies, including acquired, genetic and degenerative disorders. Although hereditary ataxia is suspected when typical symptom of ataxia with concurrent is identified, it is sometimes difficult to diagnose hereditary ataxia without genetic test. Clinically, next generation sequencing technology has been developed and widely used for diagnosis of hereditary disease. Hereby, we experienced cases of genetically confirmed <i>OPA1</i> mutation, which are presented with various clinical manifestations including ataxic gait and decreased visual acuity.

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2

Spencer, Kristie A., and Mallory Dawson. "Dysarthria Profiles in Adults With Hereditary Ataxia." American Journal of Speech-Language Pathology 28, no. 2S (July 15, 2019): 915–24. http://dx.doi.org/10.1044/2018_ajslp-msc18-18-0114.

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Purpose This preliminary study examined whether speech profiles exist for adults with hereditary ataxia based on 2 competing frameworks: a pattern of instability/inflexibility or a pattern of differential subsystem involvement. Method Four dysarthria experts rated the speech samples of 8 adults with dysarthria from hereditary ataxia using visual analog scales and presence/severity rating scales of speech characteristics. Speaking tasks included diadochokinetics, sustained phonation, and a monologue. Results Speech profiles aligned with the instability/inflexibility framework, with the pattern of instability being the most common. Speech profiles did not emerge for the majority of speakers using the differential subsystem framework. Conclusions The findings extend previous research on pure ataxic dysarthria and suggest a possible framework for understanding the speech heterogeneity associated with the ataxias. The predominance of the instability profile is consistent with the notion of impaired feedforward control in speakers with cerebellar disruption.

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3

Wallace, Stephanie E., and Thomas D. Bird. "Molecular genetic testing for hereditary ataxia." Neurology: Clinical Practice 8, no. 1 (January 25, 2018): 27–32. http://dx.doi.org/10.1212/cpj.0000000000000421.

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Purpose of reviewBecause of extensive clinical overlap among many forms of hereditary ataxia, molecular genetic testing is often required to establish a diagnosis. Interrogation of multiple genes has become a popular diagnostic approach as the cost of sequence analysis has decreased and the number of genes associated with overlapping phenotypes has increased. We describe the benefits and limitations of molecular genetic tests commonly used to determine the etiology of hereditary ataxia.Recent findingsThere are more than 300 hereditary disorders associated with ataxia. The most common causes of hereditary ataxia are expansion of nucleotide repeats within 7 genes: ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A (spinocerebellar ataxia type 6), and FXN (Friedreich ataxia). Recent reports describing the use of clinical exome sequencing to identify causes of hereditary ataxia may lead neurologists to start their clinical investigation with a less sensitive molecular test providing a misleading “negative” result.SummaryThe majority of individuals with hereditary ataxias have nucleotide repeat expansions, pathogenic variants that are not detectable with clinical exome sequencing. Multigene panels that include specific assays to determine nucleotide repeat lengths should be considered first in individuals with hereditary ataxia.

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4

Wong, D., M. Dwinnel, M. Schulzer, M. Nimmo, B. R. Leavitt, and S. D. Spacey. "Ataxia and the Role of Antigliadin Antibodies." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 34, no. 2 (May 2007): 193–96. http://dx.doi.org/10.1017/s031716710000603x.

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Background:Although it is acknowledged that patients with celiac disease can develop neurological complications such as ataxia, the association of antigliadin antibodies in the etiology of sporadic ataxia and the usefulness of this testing in diagnosis of ataxia is controversial.Methods:We investigated this association by testing for the presence of IgG and IgA antigliadin antibodies in 56 ataxic patients and 59 controls. The ataxia patients were subsequently classified into three groups: sporadic, hereditary and MSA.Results:Of the total ataxic patients, 6/56 (11%) were positive for either IgG or IGA antigliadin antibodies compared to the controls of which 5/59 (8%) were positive (p = 0.68). In a subgroup analysis, 4/29 (14%) of the samples in the sporadic ataxic subgroup were positive for antigliadin antibodies (IgG or IgA) compared to control (p = 0.44). Similar negative results were found in the remaining subgroup analyses.Conclusions:These results do not support an association between antigliadin antibodies and sporadic ataxias.

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5

Rosenberg, Roger N., and Abraham Grossman. "Hereditary Ataxia." Neurologic Clinics 7, no. 1 (February 1989): 25–36. http://dx.doi.org/10.1016/s0733-8619(18)30826-0.

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6

Yang, Sirui, Weihong Xu, Shibo Li, Shicheng Liu, Honghua Lu, Xiaosheng Hao, Feiyong Jia, and Guiling Xue. "Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family." Asian Biomedicine 5, no. 1 (February 1, 2011): 57–62. http://dx.doi.org/10.5372/1905-7415.0501.006.

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Анотація:

Abstract Background: Hereditary ataxia is a group of hereditary diseases that are characterized by chronic progressive uncoordinated gait and are frequently associated with cerebellar atrophy. Objectives: To investigate evidence-based diagnosis of hereditary ataxia by retrospective analysis of the diagnostic process in one Chinese family. Methods: Clinical records of 15 ataxia patients from one Chinese family with 46 family members were retrospectively reviewed and a tentative diagnosis was made based on clinical manifestations, signs and symptoms, mode of inheritance, and progression. Since hereditary ataxia is a group of heterogeneous diseases having various subtypes and overlapping symptoms, we adopted a stepwise evaluation to achieve a tentative diagnosis. To confirm the diagnosis, we performed polymerase chain reaction (PCR) specific for the suspected causative gene of spinocerebellar ataxia (SCA) subtype 3 (SCA3). Results: Through analysis of hereditary and clinical characteristics of family histories of the patients, we suspected that the family might suffer from SCA, especially, SCA3. The PCR assay for SCA3 showed that, five of the ten samples analyzed had a CAG trinucleotide expansion of the SCA3 gene, and four of the five members developed ataxia. The remaining one, a seven-year-old girl, showed no symptoms or signs except for uvula deviation. No clinical symptoms were found in five other members with negative PCR results. Thus, based on both clinical findings and laboratory results, we further confirmed that the family suffered from SCA3. Conclusion: Hereditary ataxias are disorders sharing overlapping symptoms. Comprehensive analysis of medical and family records together with genetic diagnosis improves diagnostic efficiency of hereditary ataxia and aides in family counseling.

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7

Kaleağası, Hakan. "Autosomal Recessive Hereditary Ataxias Except Friedreich’s Ataxia." Journal of Parkinson’s Disease and Movement Disorders 18, no. 1-2 (October 14, 2015): 8–16. http://dx.doi.org/10.5606/phhb.dergisi.2015.02.

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8

Taylor, M. J., W. Y. Chan-Lui, and W. J. Logan. "Longitudinal Evoked Potential Studies in Hereditary Ataxias." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 12, no. 2 (May 1985): 100–105. http://dx.doi.org/10.1017/s0317167100046783.

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ABSTRACT:We studied multimodal evoked potentials (EPs) longitudinally in a series of children with Friedreich’s ataxia and ataxia telangiectasia to determine both their diagnostic utility and their correlation with clinical regression.The auditory brainstem responses (ABRs) were abnormal only in the children with Friedreich’s ataxia. The abnormality seen in these patients was a rostral-caudal loss of the ABR waves. The visual EPs (VEPs) were abnormal in many of the patients; those with ataxia telangiectasia had unusually low amplitude or absent VEPs, occasionally with increased latencies, whereas those with Friedreich’s ataxia had normal amplitude VEPs, often at increased latencies. The somatosensory EPs were usually of increased latency or absent in these patients. Unlike the ABR and VEPs, they did not serve to differentiate the groups.Changes in the EPs appeared to reflect clinical deterioration; patients with little change in their EPs over several years were regressing very slowly, whereas others had rapid deterioration in both EPs and clinical status. We suggest that the EPs are diagnostically of value in degenerative ataxias and may be of value in monitoring these patients and their response to therapy.

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9

Urkasemsin, Ganokon, and Natasha J. Olby. "Canine Hereditary Ataxia." Veterinary Clinics of North America: Small Animal Practice 44, no. 6 (November 2014): 1075–89. http://dx.doi.org/10.1016/j.cvsm.2014.07.005.

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10

Pinto, Wladimir Bocca Vieira de Rezende, José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Marcus Vinícius Cristino de Albuquerque, and Orlando Graziani Povoas Barsottini. "Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition." Arquivos de Neuro-Psiquiatria 73, no. 10 (August 18, 2015): 823–27. http://dx.doi.org/10.1590/0004-282x20150119.

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Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation. We evaluated patients with acquired non-progressive cerebellar ataxia that presented previous acute or subacute onset. Clinical and neuroimaging characterization of adult patients with acquired non-progressive ataxia were performed. Five patients were identified with the phenotype of acquired non-progressive ataxia. Most patients presented with a juvenile to adult-onset acute to subacute appendicular and truncal cerebellar ataxia with mild to moderate cerebellar or olivopontocerebellar atrophy. Establishing the etiology of the acute triggering events of such ataxias is complex. Non-progressive ataxia in adults must be distinguished from hereditary ataxias.

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11

Landau, William M., Robert E. Schmidt, Ronald C. McGlennen, and Stephen G. Reich. "Hereditary Spastic Paraplegia and Hereditary Ataxia." Archives of Neurology 57, no. 5 (May 1, 2000): 733. http://dx.doi.org/10.1001/archneur.57.5.733.

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12

Nachmanoff, D. B., R. A. Segal, D. M. Dawson, R. B. Brown, and U. De Girolami. "Hereditary Ataxia with Sensory Neuronopathy: Biemond's Ataxia." Neurology 48, no. 1 (January 1, 1997): 273–75. http://dx.doi.org/10.1212/wnl.48.1.273.

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13

Paulson, Henry, and Zakaria Ammache. "Ataxia and hereditary disorders." Neurologic Clinics 19, no. 3 (August 2001): 759–82. http://dx.doi.org/10.1016/s0733-8619(05)70044-x.

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14

Bürk, Katrin. "Cognition in hereditary ataxia." Cerebellum 6, no. 3 (2007): 280–86. http://dx.doi.org/10.1080/14734220601115924.

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15

Braga Neto, Pedro, José Luiz Pedroso, Sheng-Han Kuo, C. França Marcondes Junior, Hélio Afonso Ghizoni Teive, and Orlando Graziani Povoas Barsottini. "Current concepts in the treatment of hereditary ataxias." Arquivos de Neuro-Psiquiatria 74, no. 3 (March 2016): 244–52. http://dx.doi.org/10.1590/0004-282x20160038.

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ABSTRACT Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitochondrial ataxias. We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis.

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16

Lopriore, Piervito, Valentina Ricciarini, Gabriele Siciliano, Michelangelo Mancuso, and Vincenzo Montano. "Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity." Neurology International 14, no. 2 (April 2, 2022): 337–56. http://dx.doi.org/10.3390/neurolint14020028.

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Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of cerebellar nuclei or fibres, its connection with the brainstem, or spinal and peripheral lesions leading to proprioceptive loss. Despite mitochondrial ataxias having no specific defining features, they should be included in hereditary ataxias differential diagnosis, given the high prevalence of PMDs. This review focuses on the clinical and neuropathological features and genetic background of PMDs in which ataxia is a prominent manifestation.

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17

Millichap, J. Gordon. "Hereditary Myokymia and Paroxysmal Ataxia." Pediatric Neurology Briefs 9, no. 11 (November 1, 1995): 86. http://dx.doi.org/10.15844/pedneurbriefs-9-11-10.

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18

Damak, M., F. Riant, M. Boukobza, E. Tournier-Lasserve, M.-G. Bousser, and K. Vahedi. "Late onset hereditary episodic ataxia." Journal of Neurology, Neurosurgery & Psychiatry 80, no. 5 (April 9, 2009): 566–68. http://dx.doi.org/10.1136/jnnp.2008.150615.

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19

Nilsson, H�kan, Olle Ekberg, Rolf Olsson, and Bengt Hindfelt. "Swallowing in hereditary sensory ataxia." Dysphagia 11, no. 2 (1996): 140–43. http://dx.doi.org/10.1007/bf00417904.

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20

Friedman, J. H., and P. A. Hollmann. "Acetazolamide responsive hereditary paroxysmal ataxia." Movement Disorders 2, no. 1 (1987): 67–72. http://dx.doi.org/10.1002/mds.870020110.

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21

Vaamonde, J., J. Artieda, and J. A. Obeso. "Hereditary paroxysmal ataxia with neuromyotonia." Movement Disorders 6, no. 2 (1991): 180–82. http://dx.doi.org/10.1002/mds.870060218.

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22

Lagrand, Tjerk Joppe, and Gerard Hageman. "A Pyramidal Cause of a Cerebellar Ataxia: HSP-7." Case Reports in Neurology 12, no. 3 (October 2, 2020): 329–33. http://dx.doi.org/10.1159/000509346.

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Анотація:

A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.

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23

Ayala, Iván Nicolas, Syed Aziz, Jennifer M. Argudo, Mario Yepez, Mikaela Camacho, Diego Ojeda, Alex S. Aguirre, et al. "Use of Riluzole for the Treatment of Hereditary Ataxias: A Systematic Review." Brain Sciences 12, no. 8 (August 5, 2022): 1040. http://dx.doi.org/10.3390/brainsci12081040.

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Ataxia is a constellation of symptoms that involves a lack of coordination, imbalance, and difficulty walking. Hereditary ataxia occurs when a person is born with defective genes, and this degenerative disorder may progress for several years. There is no effective cure for ataxia, so we need to search for new treatments. Recently, interest in riluzole in the treatment of ataxia has emerged. We conducted this systematic review to analyze the safety and efficacy of riluzole for treating hereditary ataxia in recent clinical trials. We conducted a systematic review using PubMed and Google Scholar as databases in search of this relationship. We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and Meta-analysis of Observational Studies in Epidemiology (MOOSE) protocols to conduct this study. For inclusion criteria, we included full-text clinical trials on humans written in English and found three clinical trials. We excluded case reports, literature reviews, systematic reviews, and meta-analyses for this analysis. We aimed to evaluate the Scale for the Assessment and Rating of Ataxia (SARA) score, the International Cooperative Ataxia Rating Scale (ICARS) score, and the safety of the medication. Two out of the three clinical trials showed statistically significant clinical improvement in the ICARS and SARA scores, while the other trial did not show improvement in the clinical or radiological outcomes. The drug was safe in all clinical trials. Overall, the results of this analysis of riluzole for the treatment of hereditary ataxia are encouraging. Further clinical trials are needed to investigate the efficacy of riluzole on hereditary ataxia.

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24

Santos, Mariana, Joana Damásio, Susana Carmona, João Luís Neto, Nadia Dehghani, Leonor Correia Guedes, Clara Barbot, et al. "Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia." Cells 11, no. 6 (March 12, 2022): 981. http://dx.doi.org/10.3390/cells11060981.

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Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal recessive (AR) inheritance, to identify the causal genes. A phenotypic classification was performed, considering the main clinical syndromes: spastic ataxia, ataxia and neuropathy, ataxia and oculomotor apraxia (AOA), ataxia and dystonia, and ataxia with cognitive impairment. The most frequent causal genes were associated with spastic ataxia (SACS and KIF1C) and with ataxia and neuropathy or AOA (PNKP). We also identified three families with autosomal dominant (AD) forms arising from de novo variants in KIF1A, CACNA1A, or ATP1A3, reinforcing the importance of differential diagnosis (AR vs. AD forms) in families with only one affected member. Moreover, 10 novel causal-variants were identified, and the detrimental effect of two splice-site variants confirmed through functional assays. Finally, by reviewing the molecular mechanisms, we speculated that regulation of cytoskeleton function might be impaired in spastic ataxia, whereas DNA repair is clearly associated with AOA. In conclusion, our study provided a genetic diagnosis for HCA families and proposed common molecular pathways underlying cerebellar neurodegeneration.

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25

Agarwal, Ayush, Divyani Garg, Mohammed Faruq, Roopa Rajan, Vinay Goyal, and Achal Kumar Srivastava. "Treating Hereditary Ataxias—Where Can We Help?" Annals of the National Academy of Medical Sciences (India) 55, no. 04 (October 2019): 182–88. http://dx.doi.org/10.1055/s-0039-1700942.

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AbstractHereditary ataxias comprise a group of neurological disorders which affect different levels of the neurological axis including the cerebellum, peripheral nerves, cognition, and the extrapyramidal system. These are categorized by the mode of inheritance as autosomal recessive, autosomal dominant, X-linked, and mitochondrial cerebellar ataxia. Definitive curative therapy is not available for these disorders. However, a wide array of emerging treatment options, especially in terms of symptomatic therapy, rescues this group from therapeutic nihilism. Several drugs have been assessed including riluzole, valproate, lithium, etc., as well as rehabilitative, and neuromodulatory strategies. In addition, symptomatic therapies for ancillary symptoms, such as seizures, movement disorders, spasticity, dystonia, etc., should also be targeted. Lastly, molecular therapeutic possibilities are also being explored in animal studies. In this review, we elucidate on the current treatment options available for hereditary ataxias.

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26

Braga-Neto, Pedro, Clecio Godeiro-Junior, Lívia Almeida Dutra, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini. "Translation and validation into Brazilian version of the Scale of the Assessment and Rating of Ataxia (SARA)." Arquivos de Neuro-Psiquiatria 68, no. 2 (April 2010): 228–30. http://dx.doi.org/10.1590/s0004-282x2010000200014.

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The hereditary ataxias comprise a very large spectrum of genetically determined neurodegenerative disorders with progressive ataxia as the prominent symptom. In order to measure the severity of cerebellar ataxia in an easier and more practical way, it was proposed a new scale: the Scale for the Assessment and Rating of Ataxia (SARA). The objective of this study was to translate and validate SARA into Brazilian Portuguese. METHOD: The SARA was translated into Brazilian Portuguese, analyzed, back translated to English, and compared to the original version. It was applied to 30 patients. In addition to SARA, we applied the International Cooperative Ataxia Rating Scale (ICARS) in all subjects. RESULTS: SARA scale was translated into Brazilian version with adequate internal consistence, but a significant correlation between ICARS and SARA was not found. CONCLUSION: SARA was translated and validated into Brazilian Portuguese language, showing good reliability and validity.

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27

PEDERSEN, L., P. PLATZ, and N. E. RAUN. "HEREDITARY NEUROLOGIC DISORDERS, CHARACTERIZED BY ATAXIA." Acta Pathologica Microbiologica Scandinavica Section C Immunology 88C, no. 1-6 (August 15, 2009): 281–86. http://dx.doi.org/10.1111/j.1699-0463.1980.tb00107.x.

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28

Brusco, Alfredo, Cinzia Gellera, Claudia Cagnoli, Alessandro Saluto, Alessia Castucci, Chiara Michielotto, Vincenza Fetoni, et al. "Molecular Genetics of Hereditary Spinocerebellar Ataxia." Archives of Neurology 61, no. 5 (May 1, 2004): 727. http://dx.doi.org/10.1001/archneur.61.5.727.

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29

Fomicheva, E. I., R. P. Myasnikov, Y. A. Selivyorstov, S. N. Illarioshkin, E. L. Dadali, and O. M. Drapkina. "Cardiomyopathy of Friedreich's Disease. Modern Methods of Diagnostic." Rational Pharmacotherapy in Cardiology 17, no. 1 (March 3, 2021): 105–10. http://dx.doi.org/10.20996/1819-6446-2021-01-05.

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Анотація:

Friedreich's disease is a hereditary neurodegenerative multiple organ disease, primarily affecting the most energy-dependent tissues (cells of the nervous system, myocardium, pancreas), the lesion of which is characterized by progressive ataxia, dysarthria, dysphagia, oculomotor disorders, loss of deep tendon reflexes, pyramid signs, diabetes mellitus, visual impairment. Friedreich's ataxia is the most common of all hereditary ataxias; nevertheless, this disease is considered orphan. By its pathogenesis, Friedreich's disease is mitochondrial ataxia, caused by a deficiency in the transcription of the FXN gene, leading to a decrease in the synthesis of the frataxin protein. Frataxin is a protein associated with the inner mitochondrial membrane, which in turn is involved in the formation of iron-sulfur clusters, the lack of which leads to a decrease in the production of mitochondrial ATP, an increase in the level of mitochondrial iron and oxidative stress. The basis of the clinical picture of Friedreich's disease is ataxia of a mixed (sensitive and cerebellar) nature. The steady and gradual progression of neurological symptoms significantly affects the quality of life of patients and is most often the leading reason for seeking medical attention. However, the prognosis is primarily due to the involvement of cardiac tissue in the pathological process. The main causes of death in patients with Friedreich's ataxia are severe heart failure and sudden cardiac death due to cardiomyopathy. The overwhelming majority of foreign and domestic publications on Friedreich's ataxia are devoted to the neurological manifestations of this disease, and little attention is paid to this problem in the cardiological scientific and practical society. The purpose of this review is to provide up-to-date information on modern methods of diagnosing myocardial damage at various stages of Friedreich's disease.

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30

Koutsis, Georgios, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, and Marios Panas. "Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective." Journal of the Neurological Sciences 336, no. 1-2 (January 2014): 87–92. http://dx.doi.org/10.1016/j.jns.2013.10.012.

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31

Clark, H. Brent. "The Neuropathology of Autoimmune Ataxias." Brain Sciences 12, no. 2 (February 12, 2022): 257. http://dx.doi.org/10.3390/brainsci12020257.

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Анотація:

Autoimmune-mediated ataxia has been associated with paraneoplastic disease, gluten enteropathy, Hashimoto thyroiditis as well as autoimmune disorders without a known associated disease. There have been relatively few reports describing the neuropathology of these conditions. This review is an attempt to consolidate those reports and determine the ways in which autoimmune ataxias can be neuropathologically differentiated from hereditary or other sporadic ataxias. In most instances, particularly in paraneoplastic forms, the presence of inflammatory infiltrates is a strong indicator of autoimmune disease, but it was not a consistent finding in all reported cases. Therefore, clinical and laboratory findings are important for assessing an autoimmune mechanism. Such factors as rapid rate of clinical progression, presence of known autoantibodies or the presence of a malignant neoplasm or other autoimmune disease processes need to be considered, particularly in cases where inflammatory changes are minimal or absent and the pathology is largely confined to the cerebellum and its connections, where the disease can mimic hereditary or other sporadic ataxias.

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32

Al-Maawali, Almundher, Susan Blaser, and Grace Yoon. "Diagnostic Approach to Childhood-Onset Cerebellar Atrophy." Journal of Child Neurology 27, no. 9 (July 4, 2012): 1121–32. http://dx.doi.org/10.1177/0883073812448680.

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Hereditary ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. Selection of appropriate clinical and genetic tests for patients with cerebellar atrophy poses a diagnostic challenge. Neuroimaging is a crucial initial investigation in the diagnostic evaluation of ataxia in childhood, and the presence of cerebellar atrophy helps guide further investigations. We performed a detailed review of 300 patients with confirmed cerebellar atrophy on magnetic resonance imaging over a 10-year period. A diagnosis was established in 47% of patients: Mitochondrial disorders were most common, followed by neuronal ceroid lipofuscinosis, ataxia telangiectasia, and late-onset GM2 gangliosidosis. We review the common causes of cerebellar atrophy in childhood and propose a diagnostic approach based on correlating specific neuroimaging patterns with clinical and genetic diagnoses.

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Lambe, Jeffrey, Bernadette Monaghan, Tudor Munteanu, and Janice Redmond. "CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype." Practical Neurology 18, no. 5 (April 20, 2018): 369–72. http://dx.doi.org/10.1136/practneurol-2017-001842.

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Increasing availability of next-generation sequencing technologies has revealed several limitations of diagnosis-driven traditional clinicogenetic disease classifications, particularly among patients with an atypical or mixed phenotype. Hereditary spastic paraplegia (HSP) and spinocerebellar ataxia (SCA) are two such disease entities with an often overlapping presentation, in which next generation exome sequencing has played a key role in identification of genes causing disease along a continuum of ataxia and spasticity. We describe a patient who presented with features of both ataxia and spasticity, in whom initial diagnostic testing was inconclusive. Ultimately next generation exome sequencing identified homozygosity for a pathogenic variant in exon 13 of the CAPN1 gene c.1534C>T(p.Arg512Cys). This case supports consideration of a less discriminatory classification system among such patients, potentially allowing for more expedient diagnosis through testing of a larger gene panel along the ‘ataxia-spasticity spectrum’.

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34

Mari, Lorenzo, Kaspar Matiasek, Christopher A. Jenkins, Alberta De Stefani, Sally L. Ricketts, Oliver Forman, and Luisa De Risio. "Hereditary ataxia in four related Norwegian Buhunds." Journal of the American Veterinary Medical Association 253, no. 6 (September 15, 2018): 774–80. http://dx.doi.org/10.2460/javma.253.6.774.

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Ekbom, Karl. "HEREDITARY ATAXIA, PHOTOMYOCLONUS, SKELETAL DEFORMITIES AND LIPOMA." Acta Neurologica Scandinavica 51, no. 5 (January 29, 2009): 393–404. http://dx.doi.org/10.1111/j.1600-0404.1975.tb01379.x.

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36

Urkasemsin, G., D. M. Nielsen, A. Singleton, S. Arepalli, D. Hernandez, C. Agler, and N. J. Olby. "Genetics of Hereditary Ataxia in Scottish Terriers." Journal of Veterinary Internal Medicine 31, no. 4 (May 29, 2017): 1132–39. http://dx.doi.org/10.1111/jvim.14738.

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37

Wood, Heather. "Repurposing riluzole to treat hereditary cerebellar ataxia." Nature Reviews Neurology 11, no. 10 (September 15, 2015): 547. http://dx.doi.org/10.1038/nrneurol.2015.161.

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38

POLLOCK, M., and B. KIES. "BENIGN HEREDITARY CEREBELLAR ATAXIA WITH EXTENSIVE THERMOANALGESIA." Brain 113, no. 4 (1990): 857–65. http://dx.doi.org/10.1093/brain/113.4.857.

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39

Saute, Jonas Alex Morales, and Laura Bannach Jardim. "Riluzole in patients with hereditary cerebellar ataxia." Lancet Neurology 15, no. 8 (July 2016): 788–89. http://dx.doi.org/10.1016/s1474-4422(16)00128-9.

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40

Brandsma, Rick, Hubertus P. H. Kremer, and Deborah A. Sival. "Riluzole in patients with hereditary cerebellar ataxia." Lancet Neurology 15, no. 8 (July 2016): 788. http://dx.doi.org/10.1016/s1474-4422(16)00131-9.

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41

Matthew, Elizabeth, Thomas Nordahl, Lawrence Schut, Anna C. King, and Robert Cohen. "Metabolic and cognitive changes in hereditary ataxia." Journal of the Neurological Sciences 119, no. 2 (November 1993): 134–40. http://dx.doi.org/10.1016/0022-510x(93)90125-i.

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42

Pedersen, Lene. "Hereditary ataxia in a large Danish pedigree." Clinical Genetics 17, no. 6 (April 23, 2008): 385–93. http://dx.doi.org/10.1111/j.1399-0004.1980.tb00168.x.

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43

Coutinho, Paula, Luis Ruano, José L. Loureiro, Vitor T. Cruz, José Barros, Assunção Tuna, Clara Barbot, et al. "Hereditary Ataxia and Spastic Paraplegia in Portugal." JAMA Neurology 70, no. 6 (June 1, 2013): 746. http://dx.doi.org/10.1001/jamaneurol.2013.1707.

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44

Epifanov, P. A., A. V. Dmitriev, and L. I. Volkova. "Combined neurodegenerative disease associated with mutations in SLC5A7 and TGM6 genes." Ural Medical Journal 20, no. 6 (March 23, 2022): 89–93. http://dx.doi.org/10.52420/2071-5943-2021-20-6-89-93.

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Introduction. Hereditary neurodegenerative diseases are a large genetic deterministic group of nosologies, which is based on the clinic of steadily progressing processes of destruction of neuronal systems. Damage to the nervous system can have various combinations, but the most common are atrophy of the cerebellum, brain stem, spinal cord columns, and also possible damage to the peripheral nervous system. Despite the classical descriptions of the clinical picture of various forms of neurodegenerative pathology and the corresponding genetic markers of the disease, in the practice of a neurologist, there are cases that are difficult to determine the nosological form of the disease.Materials and methods. The article describes a case of combined hereditary pathology associated with laboratory-confirmed mutations in the SLC5A7 genes (associated with the development of type 7A hereditary motor sensory neuropathy) and TGM6 (affecting the development of type 35 spinocerebellar ataxia) and the clinical picture of lower spastic paraplegia.Results. The clinical case presents a combined form of hereditary spastic paraplegia with pseudobulbar syndrome, mild motor-sensory neuropathy of the lower extremities, signs of cerebellar hypotrophy on MRI and moderate impairment of walking and speech function against the background of two mutations previously identified in type 35 spinocerebellar ataxia and hereditary motor-sensory ataxia of type 35 type 7A neuropathy.Discussion. Diagnosis of nosological forms of hereditary pathology, manifested by a combination of lesions of the peripheral and central nervous systems, requires a detailed analysis of the hereditary history, neurological status and genetic examination results from a neurologist.Conclusion. The clinical case demonstrates polymorphism of clinical manifestations of hereditary forms of neurodegenerative pathology and a possible combination of various phenotypic and genotypic variants.

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45

Vanasse, M., L. Garcia-Larrea, Ph Neuschwander, P. Trouillas, and F. Mauguière. "Evoked Potential Studies in Friedreich's Ataxia and Progressive Early Onset Cerebellar Ataxia." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 15, no. 3 (August 1988): 292–98. http://dx.doi.org/10.1017/s0317167100027773.

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ABSTRACT:We recorded somatosensory evoked potentials (SEP) in 15 patients affected by Friedreich's ataxia (FA) and in 9 patients with progressive early onset cerebellar ataxia (PEOCA). Brainstem auditory evoked potentials (BAEP) were also recorded in 14 FA patients and in five PEOCA patients. SEP results showed clear differences between groups of FA, evidence of peripheral involvement was seen in all patients, with absence of the N9 potential or a major reduction of its amplitude. In patients in whom central responses could be recorded, conduction velocity was normal or near normal up to the brainstem but was reduced from brainstem to cerebral cortex. Four patients with PEOCA had SEP abnormalities similar to those seen in FA. In the five other patients, the amplitude and latency of N9 were normal but conduction velocity was reduced from brainstem to cerebral cortex. In FA, BAEP were abnormal in all patients with a disease duration of four years or more but were normal in four of the five PEOCA patients. Systematic evoked potential recording is useful in the investigation of hereditary ataxias.

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46

Letko, Anna, Elisabeth Dietschi, Marco Nieburg, Vidhya Jagannathan, Corinne Gurtner, Anna Oevermann, and Cord Drögemüller. "A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia." Genes 10, no. 5 (May 10, 2019): 362. http://dx.doi.org/10.3390/genes10050362.

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Spinocerebellar ataxias is an umbrella term for clinically- and neuropathologically-heterogeneous early-onset hereditary neurodegenerative diseases affecting several dog breeds. The purpose of this study is to identify the causative genetic variant associated with ataxia, tremor, and loss of balance in Alpine Dachsbracke dogs. We investigated two related litters in which four cases were reported. Neuropathology of two dogs revealed spongy degeneration associated with axonal degeneration. Combined genetic linkage and autozygosity analyses in four cases and eight related controls showed one critical disease-associated interval on chromosomes 27. Private whole-genome sequence variants of one ataxia case against 600 unrelated controls revealed one protein-changing variant within the critical interval in the SCN8A gene (c.4898G>T; p.Gly1633Val). Perfect segregation with the phenotype was confirmed by genotyping >200 Alpine Dachsbracke dogs. SCN8A encodes a voltage-gated sodium channel and the missense variant was predicted deleterious by three different in silico prediction tools. Pathogenic variants in SCN8A were previously reported in humans with ataxia, pancerebellar atrophy, and cognitive disability. Furthermore, cerebellar ataxia syndrome in the ‘jolting’ mutant mice is caused by a missense variant in Scn8a. Therefore, we considered the SCN8A:c.4898G>T variant to be the most likely cause for recessively inherited spinocerebellar ataxia in Alpine Dachsbracke dogs.

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47

Krygier, Magdalena, and Maria Mazurkiewicz-Bełdzińska. "Milestones in genetics of cerebellar ataxias." neurogenetics 22, no. 4 (July 5, 2021): 225–34. http://dx.doi.org/10.1007/s10048-021-00656-3.

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AbstractCerebellar ataxias (CAs) comprise a group of rare, neurological disorders characterized by extensive phenotypic and genetic heterogeneity. The core clinical feature is the cerebellar syndrome, which is often accompanied by other neurological or non-neurological signs. In the last 30 years, our understanding of the CA etiology has increased significantly, and numerous ataxia-associated genes have been discovered. Conventional variants or tandem repeat expansions, localized in the coding or non-coding DNA sequences, lead to hereditary ataxia, which can display different patterns of inheritance. Advances in molecular techniques have enabled a rapid and cost-effective detection of causative variants in a significant number of CA patients. However, despite performing extensive investigations, a definite diagnosis is still unknown in the majority of affected individuals. In this review, we discuss the major advances in the genetics of CAs over the last 30 years, focusing on the impact of next-generation sequencing on the genetic landscape of childhood- and adult-onset CAs. Additionally, we outline possible directions for further genetic research in hereditary and sporadic CAs in the era of increasing application of whole-genome sequencing and genome-wide association studies in various neurological disorders.

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48

Arruda, Walter O., M. Luiza Petzl-Erler, Moema A. Cardoso, Thomas Lehner, and Jurg Ott. "Late onset autosomal dominant cerebellar ataxia a family description and linkage analysis with the hla system." Arquivos de Neuro-Psiquiatria 49, no. 3 (September 1991): 285–91. http://dx.doi.org/10.1590/s0004-282x1991000300009.

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A family suffering an autosomal dominant form of late onset hereditary cerebellar ataxia is described. Eight affected family members were personally studied, and data from another four were obtained through anamnesis. The mean age of onset was 37.1±5.4 years (27-47 years). The clinical picture consisted basically of a pure ataxic cerebellar syndrome. CT-scan disclosed diffuse cerebellar atrophy with relative sparing of the brainstem (and no involvement of supratentorial structures. Neurophysiological studies (nerve conduction, VEP and BAEP) were normal. Twenty-six individuals were typed for HLA histocompatibility antigens. Lod scores were calculated with the computer program LINKMAP. Close linkage of the ataxia gene with the HLA system in this family could be excluded - 0==0,02, z=(-2,17) - and the overall analysis of the lod scores suggest another chromossomal location than chromosome 6.

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49

Hewamadduma, Channa A., Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, et al. "Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations." Neurology Genetics 4, no. 6 (October 24, 2018): e279. http://dx.doi.org/10.1212/nxg.0000000000000279.

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ObjectiveTo clinically, genetically, and radiologically characterize a large cohort of SPG7 patients.MethodsWe used data from next-generation sequencing panels for ataxias and hereditary spastic paraplegia to identify a characteristic phenotype that helped direct genetic testing for variations in SPG7. We analyzed MRI. We reviewed all published SPG7 mutations for correlations.ResultsWe identified 42 cases with biallelic SPG7 mutations, including 7 novel mutations, including a large multi-exon deletion, representing one of the largest cohorts so far described. We identified a characteristic phenotype comprising cerebellar ataxia with prominent cerebellar dysarthria, mild lower limb spasticity, and a waddling gait, predominantly from a cohort of idiopathic ataxia. We report a rare brain MRI finding of dentate nucleus hyperintensity on T2 sequences with SPG7 mutations. We confirm that the c.1529C>T allele is frequently present in patients with long-standing British ancestry. Based on the findings of the present study and existing literature, we confirm that patients with homozygous mutations involving the M41 peptidase domain of SPG7 have a younger age at onset compared to individuals with mutations elsewhere in the gene (14 years difference, p < 0.034), whereas c.1529C>T compound heterozygous mutations are associated with a younger age at onset compared to homozygous cases (5.4 years difference, p < 0.022).ConclusionsMutant SPG7 is common in sporadic ataxia. In patients with British ancestry, c.1529C>T allele represents the most frequent mutation. SPG7 mutations can be clinically predicted by the characteristic hybrid spastic-ataxic phenotype described above, along with T2 hyperintensity of the dentate nucleus on MRI.

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Yoshii, Fumihito, Hitoshi Tomiyasu, Ryo Watanabe, and Masafuchi Ryo. "MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2." Case Reports in Neurology 9, no. 3 (November 10, 2017): 267–71. http://dx.doi.org/10.1159/000481303.

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Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hypertrophy of the inferior olivary nuclei on proton density- and T2-weighted MRI. This pattern has never been reported in patients with SCA1, SCA3, or SCA6, and may make it possible to differentiate SCA2 from other hereditary spinocerebellar ataxias.

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