Literature DB >> 16186543

Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.

P Imbrici1, L H Eunson, T D Graves, K P Bhatia, N H Wadia, D M Kullmann, M G Hanna.   

Abstract

Episodic ataxia type 2 (EA2) is caused by calcium channel (CACNA1A) mutations and typically begins before age 20 years. The molecular basis of late-onset EA2 is unclear. The authors describe a case of late-onset EA2 associated with the first multiple-base pair insertion in CACNA1A. Molecular expression revealed evidence of impaired calcium channel function, suggesting that genetically induced reduction in calcium channel function may associate with cases of late-onset EA2.

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Year:  2005        PMID： 16186543     DOI： 10.1212/01.wnl.0000176069.64200.28

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  19 in total

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