In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.


Journal Article

Senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (AOA2) and (2) juvenile amyotrophic lateral sclerosis 4 (ALS4). The authors describe clinical and molecular genetic studies of mother and daughter who display symptoms of cerebellar ataxia/atrophy, oculomotor defects, and tremor. Both patients share Senataxin mutations N603D and Q653K in cis (N603D-Q653K), adjacent to an N-terminal domain thought to function in protein-protein interaction. The N-terminal and helicase domains appear to harbor missense mutation clusters associated with AOA2 and ALS4. Working synergistically, the N603D-Q653K mutations may confer a partial dominant negative effect, acting on the senataxin N-terminal, further expanding the phenotypic spectrum associated with Senataxin mutations.

Full Text

Duke Authors

Cited Authors

  • Bassuk, AG; Chen, YZ; Batish, SD; Nagan, N; Opal, P; Chance, PF; Bennett, CL

Published Date

  • January 1, 2007

Published In

Volume / Issue

  • 8 / 1

Start / End Page

  • 45 - 49

PubMed ID

  • 17096168

Pubmed Central ID

  • 17096168

Electronic International Standard Serial Number (EISSN)

  • 1364-6753

International Standard Serial Number (ISSN)

  • 1364-6745

Digital Object Identifier (DOI)

  • 10.1007/s10048-006-0067-8


  • eng