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Am J Hum Genet. 2003 Aug;73(2):397-403. Epub 2003 Jul 9.

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.

Author information

1
Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Charlestown, MA 02129, USA.

Abstract

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in approximately 10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for approximately 25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.

PMID:
12858291
PMCID:
PMC1180377
DOI:
10.1086/377158
[Indexed for MEDLINE]
Free PMC Article
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