The genetics of motor neuron diseases.
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) 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 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).
Figlewicz
Denise A
DA
Department of Neurology, University of Michigan, Ann Arbor, MI 48109-0588, USA
Orrell
Richard W
RW
D000690:Amyotrophic Lateral Sclerosis / Q000145:classification / Q000235:genetics; D000818:Animals; D020143:Gangliosidoses, GM2 / Q000209:etiology / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics; D006801:Humans; D016472:Motor Neuron Disease / Q000235:genetics*; D009134:Muscular Atrophy, Spinal / Q000145:classification / Q000209:etiology / Q000235:genetics; D011944:Receptors, Androgen / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*
D011944:Receptors, Androgen