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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

117 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

Funding

We are indebted to the patients and their families for their participation in this research. This research was supported by the Angel Fund for ALS Research, Project ALS, the Muscular Dystrophy Association (to D.M.Y., R.H.B., and J.L.H.), the Amyotrophic Lateral Sclerosis Association (to R.H.B.), the Pierre de Bourgknecht ALS Research Foundation (to R.H.B.), National Institutes of Health grants 1PO1NS31248-02 (to R.H.B.) and RO1NS37912 (to R.H.B.), and the Howard Hughes Medical Institute (to H.R.H.). H.R.H. is an Investigator of the Howard Hughes Medical Institute.

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis'. Together they form a unique fingerprint.

Cite this