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American Academy of Neurology (AAN), Neurology, 6(65), p. 944-946, 2005

DOI: 10.1212/01.wnl.0000176069.64200.28

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

Journal article published in 2005 by P. Imbrici ORCID, L. H. Eunson, T. D. Graves, Bhatia Kp, K. P. Bhatia, N. H. Wadia, Wodia Nh, D. M. Kullmann, Hanna Mg, Kullmann Dm, M. G. Hanna
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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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.