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Clinical implications of the genetics of ALS and other motor neuron diseases

From the Department of Clinical Neurosciences (Dr. Orrell), Royal Free and University College Medical School, University College London, United Kingdom; and Departments of Neurology and Neurobiology and Anatomy (Dr. Figlewicz), University of Rochester Medical Center, NY.

Address correspondence and reprint requests to Dr. R.W. Orrell, Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Rowland Hill Street, London NW3 2PG, UK; e-mail: r.orrell{at}rfc.ucl.ac.uk

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.

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