Ubiquitin-positive inclusion in anterior horn cells in subgroups of motor neuron diseases: A comparative study of adult-onset amyotrophic lateral sclerosis, juvenile amyotrophic lateral sclerosis and werdnig-hoffmann disease

The motor neuron disorders are a clinically diverse group of diseases that share a pathologic loss of the motor neurons. The most common adult-onset disorder is amyotrophic lateral sclerosis (ALS). Other forms include the spinal muscular atrophies, infectious motor neuronopathies, and rare focal forms of anterior horn cell loss.Overall, the incidence rate of ALS is believed to be 1.5 to 2.0 cases per 100,000 person-years, and the prevalence rate is 4 to 6 cases per 100,000 population. Other than in sparsely populated geographic clusters (eg, Guam and the Kii Peninsula of Japan), the incidence rate seems consistent across ethnic and geographic boundaries.

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AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISEASES. Advances in Neurology Series Volume 56. 1991. Edited by P. Rowland. Lewis Published by Raven Press, New York. 591 pages. $149 Cdn. approx.

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100042645 ◽

1992 ◽

Vol 19 (1) ◽

pp. 99-99

Author(s):

Arthur J. Hudson

Keyword(s):

New York ◽

Amyotrophic Lateral Sclerosis ◽

Motor Neuron ◽

Motor Neuron Diseases ◽

Lateral Sclerosis

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A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS

Journal of Personalized Medicine ◽

10.3390/jpm10030058 ◽

2020 ◽

Vol 10 (3) ◽

pp. 58 ◽

Cited By ~ 2

Author(s):

Owen Connolly ◽

Laura Le Gall ◽

Gavin McCluskey ◽

Colette G Donaghy ◽

William J Duddy ◽

...

Keyword(s):

Systematic Review ◽

Amyotrophic Lateral Sclerosis ◽

Respiratory Failure ◽

Motor Neuron ◽

Motor Neurons ◽

Disease Duration ◽

Phenotype Correlation ◽

Motor Neuron Diseases ◽

Relationship Of ◽

Lateral Sclerosis

Amyotrophic lateral sclerosis is a rare and fatal neurodegenerative disease characterised by progressive deterioration of upper and lower motor neurons that eventually culminates in severe muscle atrophy, respiratory failure and death. There is a concerning lack of understanding regarding the mechanisms that lead to the onset of ALS and as a result there are no reliable biomarkers that aid in the early detection of the disease nor is there an effective treatment. This review first considers the clinical phenotypes associated with ALS, and discusses the broad categorisation of ALS and ALS-mimic diseases into upper and lower motor neuron diseases, before focusing on the genetic aetiology of ALS and considering the potential relationship of mutations of different genes to variations in phenotype. For this purpose, a systematic review is conducted collating data from 107 original published clinical studies on monogenic forms of the disease, surveying the age and site of onset, disease duration and motor neuron involvement. The collected data highlight the complexity of the disease’s genotype–phenotype relationship, and thus the need for a nuanced approach to the development of clinical assays and therapeutics.

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