Article
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
Neurology - 10 Jun 1999
Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, Castelnovo G, Deonna T, Gérard P, Devoize J L, Gayou A, Perrouty B, Soisson T, Autret A, Warter J M, Vighetto A, Van Bogaert P, Alamowitch S, Roullet E, Tournier-Lasserve E
Abstract excerpt
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...
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