Clinical implications of the genetics of ALS and other motor neuron diseases.
Genetic mutations have been identified in the major motor neuron diseases, including ALS, spinal muscular atrophy, bulbospinal muscular atrophy (Kennedy's disease), the hereditary spastic paraplegias, and rarer conditions such as GM2 gangliosidosis (hexosaminidase A deficiency). These include mutations in the SOD1 gene, deletions of the telomeric copy of the SMN gene, expansions of the trinucleotide repeat region in the first exon of the androgen receptor gene, other rare mutations, and diseases where linkage has been established but the gene not identified. Identification of one of these genetic abnormalities will allow specific diagnosis in patients. Because cure is not yet available, presymptomatic testing is seldom indicated; in such cases, careful counseling is appropriate.
Orrell
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RW
Department of Clinical Neurosciences, Royal Free University College Medical School, London, United Kingdom. r.orrell@rfc.ucl.ac.uk
Figlewicz
D A
DA
D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics*; D000818:Animals; D017353:Gene Deletion; D006801:Humans; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense; D018911:Trinucleotide Repeats