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

From the Department of Clinical and Experimental Epilepsy (Drs. Imbrici and Kullmann), Department of Molecular Neurosciences (Drs. Eunson, Graves, and Hanna), and Sobell Department of Motor Neuroscience and Movement Disorders (Dr. Bhatia), Institute of Neurology, University College London, United Kingdom; and Department of Neurology (Dr. Wadia), Jaslok Hospital and Research Centre, India.

Address correspondence and reprint requests to Dr. Michael G. Hanna, Centre for Neuromuscular Disease, Department of Molecular Neurosciences, Institute of Neurology, Queen Square, London WC1N 3BG, UK; e-mail: m.hanna{at}ion.ucl.ac.uk

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.

Supported by the Epilepsy Research Foundation, the Guarantors of Brain, the UCLH Trust Special Trustees, the Medical Research Council of Great Britain, and the National Institutes of Heath–funded Consortium for the Investigation of Neurologic Channelopathies program.

Disclosure: The authors report no conflicts of interest.

Received February 2, 2005. Accepted in final form May 23, 2005.

This article has been cited by other articles:

				J.C. Jen, T.D. Graves, E.J. Hess, M.G. Hanna, R.C. Griggs, R.W. Baloh, and the CINCH investigators Primary episodic ataxias: diagnosis, pathogenesis and treatment Brain, October 1, 2007; 130(10): 2484 - 2493. [Abstract] [Full Text] [PDF]