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 journalArticlepeer-review

47 Scopus citations


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
Issue number1
StatePublished - Jan 2007


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

ASJC Scopus subject areas

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


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