The genetics of motor neuron diseases
Authors:
Denise A. Figlewicz a;
Richard W. Orrell b
Affiliations: | a Department of Neurology, University of Michigan, Ann Arbor MI, USA |
b University Department of Clinical Neurosciences, Royal Free and University College Medical School, London NW3 2PF, United Kingdom |
DOI:
10.1080/14660820310011287
Publication Frequency:
6 issues per year
Subject:
Neurology;
Number of References: 84
Formats available:
PDF
(English)
Previously published as:
Amyotrophic Lateral Sclerosis and other Neuron Disorders
(1466-0822,
1471-180X)
until 2006
Abstract
Motor neuron diseases may be divided into three categories: those with lower motor neuron involvement - spinal muscular atrophy (SMA) and spinobulbar muscular atrophy (SBMA or Kennedy's disease); those with upper motor neuron involvement - primary lateral sclerosis (PLS)1,2 and the spastic paraplegias; and those with combined upper and lower motor neuron involvement - amyotrophic lateral sclerosis (ALS). Other familial motor neuron disorders include hereditary neuronopathies, GM2 gangliosidosis, and possibly the ALS/PD syndrome of Guam. The contribution of genetics to the etiopathogenesis of motor neuron disorder varies considerably, accounting for a high percentage of spinal muscular atrophies, but only a small fraction of cases of ALS. The mode of inheritance also varies, with examples of autosomal dominant (AD), autosomal recessive (AR), or X-linked kindreds. (Tables 1 and 2).
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Keywords: ALS; genetics; motor neuron diseases; spinal muscular atrophy; spinobulbar neuronopathy |
view references (84) : view citations |