High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

@article{Denier1999HighPO,
  title={High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.},
  author={Christian Denier and Anne Ducros and Katayoun Vahedi and Anne Joutel and Patrick Thierry and Annegret Ritz and Giovanni Castelnovo and Thierry W Deonna and Pascale G{\'e}rard and J L Devoize and A. Gayou and B Perrouty and T Soisson and Alain Autret and J. M. Warter and A. Vighetto and Patrick Van Bogaert and S Alamowitch and Etienne Roullet and Elisabeth Tournier-Lasserve},
  journal={Neurology},
  year={1999},
  volume={52 9},
  pages={1816-21}
}
OBJECTIVE To characterize the nature of CACNA1A mutations in episodic ataxia type 2 (EA2), to search for mutations in sporadic cases, and to delineate better the clinical spectrum. BACKGROUND EA2 is an autosomal dominant disorder characterized by recurrent acetazolamide-responsive attacks of cerebellar ataxia. The mutated gene, CACNA1A, located on chromosome 19, encodes the alpha1A subunit of a voltage-dependent calcium channel. So far, only three CACNA1A mutations have been identified-in two… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 59 extracted citations

Similar Papers

Loading similar papers…