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Books on the topic 'Spinal muscular atrophy; Neurodegenerative'

Author: Grafiati

Published: 4 June 2021

Last updated: 8 February 2022

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1

Parker, James N., and Philip M. Parker. The official patient's sourcebook on spinal muscular atrophy. Edited by Icon Group International Inc. San Diego, Calif: Icon Health Publications, 2002.

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2

Pons, José Antonio Fortuny. Diálogos con Axel: Cuando seamos inmortales. Barcelona: Ediciones de la Tempestad, 2003.

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Bell, Howard. More than a conqueror: Winning in the face of adversity. Shippensburg, PA: Treasure House, 1997.

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4

Parker, James N., and Philip M. Parker. Spinal and bulbar muscular atrophy: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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5

Parker, James N., and Philip M. Parker. Spinal muscular atrophy: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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6

Censier, Delphine. Elle, moi, une autre. Lausanne: Favre, 2005.

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7

Zuo lun yi ye yao lü xing: Lü xing, hui hua, chuang zuo, zhu meng, sheng huo. Taibei Shi: Zhang lao shi wen hua shi yeh gu fen yu xian gong si, 2012.

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8

Panzarino, Connie. The me in the mirror. Seattle, WA: Seal Press, 1994.

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9

writer, Li Cuiqing, ed. Jian dong ren sheng you zen yang?: Wo Hu Tingshuo, zi ji de ren sheng zi ji kang! Taibei Shi: Tian xia za zhi gu fen you xian gong si, 2015.

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10

Panzarino, Connie. The me in the mirror. Seattle, WA: Seal Press, 1994.

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11

Miller, Andrew K. Getting up: Thoughts on falling : a collection of essays. Johannesburg: Ge'ko Publishing, 2008.

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12

I sit all amazed: The extraordinary power of a mother's love. Salt Lake City, Utah: Deseret Book, 2011.

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13

Talbot, Kevin. Motor neuron disease: A practical manual. Oxford: Oxford University Press, 2010.

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14

Talbot, Kevin. Motor neuron disease: A practical manual. Oxford: Oxford University Press, 2010.

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15

Motor neuron disease: A practical manual. Oxford: Oxford University Press, 2010.

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16

Miracle boy grows up: How the disability rights revolution saved my sanity. New York, NY: Skyhorse Pub., 2012.

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17

Laughing at my nightmare. New York: Roaring Brook Press, 2014.

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18

1971-, Carr Matt, ed. Not so different: What you really want to ask about having a disability. New York: Roaring Brook Press, 2017.

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19

Nat, Roxana, and Andreas Eigentler. Cell Culture, iPS Cells and Neurodegenerative Diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190233563.003.0013.

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Somatic reprogramming technology, which enables the conversion of adult human non-neural cells into neurons, has progressed rapidly in recent years. The derivation of patient-specific induced pluripotent stem (iPS) cells has become routine. The inherent broad differentiation potential of iPS cells makes possible the generation of diverse types of human neurons. This constitutes a remarkable step in facilitating the development of more appropriate and comprehensive preclinical human disease models, as well as for high throughput drug screenings and cell therapy. This chapter reviews recent progress in the human iPS cell culture models related to common and rare NDDs, such as Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, amyotrophic lateral sclerosis, spinal muscular atrophy, and degenerative ataxias. It focuses on the pathophysiological features revealed in cell cultures, and the neuronal subtypes most affected in NDDs. The chapter discusses the validity, limitation, and improvements of this system in faithfully and reproducibly recapitulating disease pathology.

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20

Monani, Umrao R., and Darryl C. De Vivo. Spinal Muscular Atrophy. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0033.

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Spinal muscular atrophy (SMA) is a common, inherited, pediatric motor neuron disorder caused by insufficient SMN protein. As of yet, there is no good treatment for the disease. SMA has an incidence of ~1 in 10,000 newborns carrier frequency of 1 in 50, making it the most common inherited cause of infant mortality. Patients with severe SMA, or Werdnig-Hoffman disease, typically manifest weakness during the first 6 months of life. Such patients are so debilitated that they never sit independently, frequently succumbing to the disease before age 2 years. A much milder form of SMA, Kugelberg-Welander disease, with onset after 18 months of age, often during childhood and characterized by prolonged ambulation and a normal life expectancy, was described in 1956. In 1995 mutations in a novel gene, Survival of Motor Neuron 1 (SMN1), were determined to be the specific cause of SMA.

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21

Burghes, Arthur H. M., and Vicki L. McGovern. Spinal Muscular Atrophy. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0034.

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Spinal muscular atrophies affect the lower motor neuron. The most common SMA maps to 5q is an autosomal recessive disorder. SMA is caused by loss or mutation of the SMN1 gene and retention of the SMN2 gene, and these genes lie in a complex area of the genome. Mild missense alleles of SMN1 work to complement SMN2 to give function and therapeutics that restore SMN levels are in clinical testing. Modifiers that lie outside the SMN gene locus and influence severity clearly exist, but what they are remains unknown as do the critical genes affected by SMN deficiency.

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22

Spinal Muscular Atrophy. Elsevier, 2017. http://dx.doi.org/10.1016/c2015-0-00153-8.

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23

Shaw, Pamela. The motor neurone disorders. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0524.

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The motor neurone diseases are a group of disorders in which there is selective loss of function of upper and/or lower motor neurones in the motor cortex, brainstem, and spinal cord resulting in impairment in the nervous system control of voluntary movement. The term ‘motor neurone disease’, often abbreviated to ‘MND’, is used differently in different countries. In the United Kingdom it is used as an umbrella term to cover the related group of neurodegenerative disorders including amyotrophic lateral sclerosis, the commonest variant, as well as progressive muscular atrophy, primary lateral sclerosis, and progressive bulbar palsy. However, in many other countries amyotrophic lateral sclerosis, referred to as ALS, has been adopted as the umbrella term for this group of clinical variants of motor system degeneration. There is a tendency now internationally to use the ALS/MND abbreviation to cover this group of conditions. Careful diagnosis within the motor neurone diseases is essential for advising about prognosis, potential genetic implications, and for identifying those with acquired lower motor neurone syndromes who may benefit for the administration of immunomodulatory therapy.

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24

Sumner, Charlotte J., Sergey Paushkin, and Chien-Ping Ko. Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Elsevier Science & Technology Books, 2016.

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25

Merlini, L., and C. Granata. Current Concepts in Childhood Spinal Muscular Atrophy. Springer, 1989.

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26

Arnold, W. David, and Arthur H. M. Burghes. In Vitro and In Vivo Models of Spinal Muscular Atrophy. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0035.

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Spinal muscular Atrophy (SMA) is caused by reduced levels of the SMN protein. In humans this is caused by loss of SMN1 and retention of SMN2. The challenge in modelling SMA, in either tissue culture cells or animals, is first to obtain the desired SMN levels equivalent to what is observed in SMA. Various models of SMA in tissue culture cells, invertebrates, and mammals have been created have been developed. The targets of SMN reduction that are most relevant for the pathogenesis of SMA and how the phenotype of SMA can be modified independent of SMN levels are two important questions that remain unanswered. Here the current in vitro and in vivo models of SMA are summarized.

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27

Allen, Trina. Living with Spinal Muscular Atrophy: The True Story of Kassidy Jade Sears. iUniverse, Inc., 2006.

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28

Zoern, Stacy. I Like to Run Too. Science and Humanities Press, 2007.

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29

Publications, ICON Health. The Official Parent's Sourcebook on Spinal Muscular Atrophy: A Revised and Updated Directory for the Internet Age. ICON Health Publications, 2002.

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30

J, Vinken P., Bruyn G. W, Klawans Harold L, and Jong, J. M. B. V. de., eds. Diseases of the motor system. Amsterdam: Elsevier Science Publishers, 1991.

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31

Kaplan, Tamara, and Tracey Milligan. Motor Neuron Disease (DRAFT). Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190650261.003.0018.

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The video in this chapter explores motor neuron disease, including amytrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). It discusses the signs of upper motor neuron (UMN) and lower motor neuron (LMN) pathology, as well as Kennedy disease.

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32

Hain, Richard D. W., and Satbir Singh Jassal. Specific non-malignant diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198745457.003.0017.

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The number of life-limiting conditions in paediatrics is vast, and paediatric palliative medicine is generally based equally on both malignant and non-malignant conditions. There are several medical conditions that are common enough for it to be helpful to know about them in more detail. As all the conditions, by definition, have no cure, it is best to tackle each symptom with which the child presents individually, never forgetting that medical intervention is not the only modality open to us. Common conditions, such as Duchenne muscular dystrophy, mucopolysaccharidosis type 1, mucopolysaccharidosis type 3, Batten’s disease, spinal muscular atrophy, and trisomy 18, are covered in this chapter. Details of clinical features and prognosis are described for each.

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33

Thakore, Nimish, and Erik P. Pioro. Types of Motor Neuron Diseases. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0022.

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Disorders of lower motor neurons (LMNs, or anterior horn cells) and upper motor neurons (UMNs), jointly termed motor neuron disorders (MNDs), are diverse and numerous. The prototypical MND, namely amyotrophic lateral sclerosis (ALS), a relentlessly progressive lethal disorder of adults, is the subject of another section and will not be discussed further here. Other MNDs include spinal muscular atrophy (SMA), of which there are four types: Kennedy’s disease, Brown-Violetto-Van Laere, and Fazio-Londe syndromes, lower motor neuron disorders as part of neurodegenerations and secondary motor neuron disease as part of malignancy, radiation and infection.

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34

Shaibani, Aziz. Proximal Arm Weakness. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0012.

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Proximal arm muscles include supra and infra spinatii, pectoralis major and minor, teres major and minor, rhomboids, serratus anterior, deltoids, biceps, and triceps. The main function of these muscles is to abduct the arms. The first sign of proximal weakness is difficulty raising arms above the horizontal level. Shoulder conditions like supraspinatus tendonitis are often confused as proximal weakness. In myopathies, usually proximal arm weakness is associated with proximal leg weakness. Motor neuron diseases (MNDs) like amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) and neuropathies like chronic inflammatory demyelinating polyneuropathy (CIDP) may present with symmetrical proximal weakness. For differentiation, electromyography/nerve conduction study (EMG/NCS) is crucial.

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35

Cohen, Jeffrey A., Justin J. Mowchun, Victoria H. Lawson, and Nathaniel M. Robbins. A 34-Year-Old Male with Possible Myopathic Process. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190491901.003.0022.

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Adult-onset spinal muscular atrophy (SMA type IV) presents in a manner similar to a myopathy. Normal CK and a neurogenic pattern of denervated changes on electrodiagnostic study suggest the actual diagnosis. The diagnosis of SMA is confirmed by the presence of a homozygous deletion or mutation of the SMN1 gene in most patients. Both the presence of SMN1 deletion/mutation and the effectiveness of rescue from a second copy of the gene, SMN2, determines the age at onset and severity of SMA. Differential includes other genetic conditions affecting motor neurons, postpolio syndrome, monomelic amyotrophy, and motor neuropathies/poly-radiculopathies. The management of SMA is predominantly supportive, but this can significantly impact quality of life.

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36

Laughing At My Nightmare. Square Fish, 2016.

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37

Mathiesen, Amber, and Kali Roy. Carrier Screening. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190681098.003.0006.

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This chapter provides information on carrier screening options available, including testing based on ethnicity, targeted to the family history or clinical situation, or by use of expanded carrier testing panels. It describes who should be offered testing, the timing of testing, how to evaluate the risks of conditions being tested, and how to interpret results, in addition to providing a brief description of newborn screening. The chapter describes testing protocols for specific conditions including cystic fibrosis, spinal muscular atrophy, FMR-1–related conditions, and hemoglobinopathies. It reviews ethnicity-based screening, as in Ashkenazi Jewish and French Canadian populations, as well as screening when there is a family history. It also discusses the use, benefits, and recommendations when offering expanded carrier screening.

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38

Pitt, Matthew. Needle EMG findings in different pathologies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0007.

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In this chapter, the inability of electromyography (EMG) to be able to further progress the diagnosis of myopathy on its own—requiring muscle biopsy and other modalities such as genetics to complete this process—is emphasized. The role of EMG particularly in the era of genetics is discussed. Findings in neurogenic abnormality are next described and the important hereditary conditions such as spinal muscular atrophy (SMA), distal SMA, Brown–Vialetto–Van Laere syndrome, segmental anterior horn cell disease, conditions with progressive bulbar palsy, SMARD1, and pontocerebellar hypoplasia with spinal muscle are discussed in detail. The differential diagnosis of 5q SMA type 1 is specifically outlined. Acquired forms of anterior horn disease, including Hirayama disease, poliomyelitis and enteropathic motor neuropathy, Hopkins syndrome, tumours, and vascular lesions are covered. There is discussion of the use of physiological tests to monitor progress in SMA, with tests including compound muscle action potential amplitude and motor unit number estimation. Finally, the important correlation between muscle biopsy and EMG is highlighted.

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39

Turner, Martin R. Motor neuron disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0232.

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Motor neuron disease (MND) is characterized by progressive muscular weakness due to simultaneous degeneration of lower and upper motor neurons (L/UMNs). Involvement of LMNs, arising from the anterior horns of the spinal cord and brainstem, leads to secondary wasting as a result of muscle denervation. Involvement of the UMNs of the motor cortex and corticospinal tract results in spasticity. In ~85% of cases, there is clear clinical involvement of both, and the condition is termed ‘amyotrophic lateral sclerosis’ (ALS; a term often used synonymously with MND). In ~13% of cases, there may be only LMN signs apparent, in which case the condition is termed ‘progressive muscular atrophy’, although such cases have a natural history that is to largely identical to that of ALS. In a very small group of patients (~2%), there are only UMN signs for at least the first 4 years, in which case the condition is termed ‘primary lateral sclerosis’; such cases have a uniformly slower progression. There is clinical, neuropathological, and genetic overlap between MND and some forms of frontotemporal dementia.

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40

Rutherford, Kunel, and John L. R. Forsythe. Motor Neuron Disease. Saunders Ltd., 2002.

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41

W, Kuncl Ralph, ed. Motor neuron disease. London: W.B. Saunders, 2002.

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