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

Journal Article (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

  • PMC1180377

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/377158

Language

  • eng

Conference Location

  • United States