Article
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
Neurology - 27 Sept 2005
Imbrici P, Eunson L H, Graves T D, Bhatia K P, Wadia N H, Kullmann D M, Hanna M G
Abstract excerpt
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...
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