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

Peter C. Sapp, Betsy A. Hosler, Diane McKenna-Yasek, Wendy Chin, Amity Gann, Hilary Genise, Julie Gorenstein, Michael Huang, Wen Sailer, Meg Scheffler, Marianne Valesky, Jonathan L. Haines, Margaret Pericak-Vance, Teepu Siddique, H. Robert Horvitz, Robert H. Brown

Research output: Contribution to journalArticlepeer-review

111 Scopus citations

Abstract

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in ∼10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for ∼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.

Original languageEnglish (US)
Pages (from-to)397-403
Number of pages7
JournalAmerican journal of human genetics
Volume73
Issue number2
DOIs
StatePublished - Aug 1 2003
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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