The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

Journal Article (Journal Article)

Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PLS (JPLS) locus overlapping the previously identified ALS2 locus on chromosome 2q33. We report two deletion mutations in a new gene that are found both in individuals with ALS2 and those with JPLS, indicating that these conditions have a common genetic origin. The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).

Full Text

Duke Authors

Cited Authors

  • Yang, Y; Hentati, A; Deng, HX; Dabbagh, O; Sasaki, T; Hirano, M; Hung, WY; Ouahchi, K; Yan, J; Azim, AC; Cole, N; Gascon, G; Yagmour, A; Ben-Hamida, M; Pericak-Vance, M; Hentati, F; Siddique, T

Published Date

  • October 1, 2001

Published In

Volume / Issue

  • 29 / 2

Start / End Page

  • 160 - 165

PubMed ID

  • 11586297

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng1001-160


  • eng

Conference Location

  • United States