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The clinical and genetic spectrum of spinocerebellar ataxia 14

From the Departments of Neurology and Medicine (Drs. Chen, Raskind, and Bird, P. Cimino, A. Feleke, M. Matsushita, J. Wolff, C. Morgan, and D. Lau) University of Washington, Seattle; Institute of Human Genetics (Dr. Ranum), University of Minnesota, Minneapolis; Department of Molecular and Human Genetics (Dr. Zoghbi), Baylor University, Houston, TX; Department of Neurology (Dr. Sasaki and Yabe), Hokkaido University, Sapporo, Japan; CentraCare Clinic (Dr. Schut), Saint Cloud, MN; Departments of Psychiatry and Neurology (Dr. Margolis), Johns Hopkins University, Baltimore, MD; Geriatric Research Education and Clinical Center (Dr. Bird, H. Lipe, J. Wolff), VAPSHCS, Seattle, WA; VAMC (Dr. Fernandez) Columbus, OH; Mental Illness Research Education and Clinical Center (Dr. Raskind), VAPSHCS, Seattle, WA.

Address correspondence and reprint requests to Dr. Thomas D. Bird, GRECC S-182, 1660 S. Columbian Way, Seattle WA 98108; e-mail: tomnroz{at}u.washington.edu

Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described.

Editorial, see page 1113.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Content for the April 12 issue to find the link for this article.

Supported by National Organization for Rare Diseases, VA Research Funds, National Ataxia Foundation, and the P. Clementz family. This work was also facilitated by grant no. P30 HD02274 from the National Institute of Child Health and Human Development.

Received October 6, 2004. Accepted in final form December 9, 2004.

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