Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.
Published
Journal Article
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.
Full Text
Duke Authors
Cited Authors
- Sapp, PC; Hosler, BA; McKenna-Yasek, D; Chin, W; Gann, A; Genise, H; Gorenstein, J; Huang, M; Sailer, W; Scheffler, M; Valesky, M; Haines, JL; Pericak-Vance, M; Siddique, T; Horvitz, HR; Brown, RH
Published Date
- August 2003
Published In
Volume / Issue
- 73 / 2
Start / End Page
- 397 - 403
PubMed ID
- 12858291
Pubmed Central ID
- 12858291
International Standard Serial Number (ISSN)
- 0002-9297
Digital Object Identifier (DOI)
- 10.1086/377158
Language
- eng
Conference Location
- United States