Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.

doi:10.1016/j.jns.2007.01.008

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Article

Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.

Journal of the neurological sciences - 15 Mar 2007

Cricchi F, Di Lorenzo C, Grieco G S, Rengo C, Cardinale A, Racaniello M, Santorelli F M, Nappi G, Pierelli F, Casali C

Abstract excerpt

Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominent cerebellar involvement and good response to acetazolamide therapy. However, while SCA6 develops...

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PMID: 17292920
DOI: 10.1016/j.jns.2007.01.008

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