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

A. G. Bassuk, Y. Z. Chen, S. D. Batish, N. Nagan, P. Opal, P. F. Chance, C. L. Bennett*

*Corresponding author for this work

Research output: Contribution to journalArticle

39 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)45-49
Number of pages5
JournalNeurogenetics
Volume8
Issue number1
DOIs
StatePublished - Jan 1 2007

Keywords

  • ALS4
  • AOA2
  • Ataxia
  • Nucleolus
  • Sen1p
  • Senataxin

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Cellular and Molecular Neuroscience

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    Bassuk, A. G., Chen, Y. Z., Batish, S. D., Nagan, N., Opal, P., Chance, P. F., & Bennett, C. L. (2007). In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. Neurogenetics, 8(1), 45-49. https://doi.org/10.1007/s10048-006-0067-8