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NEUROLOGY 2005;64:542-544
© 2005 American Academy of Neurology
Brief Communications

Decreased cerebellar total creatine in episodic ataxia type 2: A 1H MRS study

H. Harno, MD, S. Heikkinen, PhD, M. A. Kaunisto, MSc, M. Kallela, MD, PhD, A-M. Häkkinen, PhD, M. Wessman, PhD, M. Färkkilä, MD, PhD and N. Lundbom, MD, PhD

From the Departments of Neurology (Drs. Harno, Kallela, and Färkkilä) and Oncology (Dr. Häkkinen), Helsinki University Central Hospital; and Helsinki Medical Imaging Center (Drs. Heikkinen and Lundbom), Department of Clinical Chemistry (Dr. Wessman, M.A. Kaunisto), Biomedicum Helsinki (Dr. Wessman, M.A. Kaunisto), Research Program in Molecular Medicine, and Folkhälsan Genetic Institute (Dr. Wessman), Folkhälsan Research Centre, Biomedicum, University of Helsinki, Finland.

Address correspondence and reprint requests to Dr. Hanna Harno, HUCH Institute/Terkko, P.O. Box 105, 00029 HUS, Finland; e-mail: hanna.harno{at}hus.fi

Episodic ataxia type 2 (EA2) affects mainly the cerebellum via mutations in the CACNA1A gene. The authors used proton MR spectroscopy to examine cerebellar and thalamic metabolism of nine mostly nonataxic EA2 family members (all with proven CACNA1A mutation) and nine healthy control subjects. Cerebellar total creatine was lower in the patient group (p = 0.005) than in control subjects, possibly reflecting an early sign of calcium channel dysfunction in EA2.

Supported by the Helsinki University Central Hospital, Biomedicum Helsinki Foundation, Finnish Cultural Foundation, Orion Research Corporation, Finnish Neurology Foundation, Lilly Foundation, Maire Taponen Foundation, Research Foundation of the University of Helsinki (Young Scientist’s Award to M.A.K.), Academy of Finland, and Maud Kuistila Foundation.

Received June 9, 2004. Accepted September 28, 2004.