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NEUROLOGY 2004;63:1509-1512
© 2004 American Academy of Neurology
Brief Communications

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10

H. A.G. Teive, MD, B. B. Roa, PhD, S. Raskin, MD PhD, P. Fang, PhD, W. O. Arruda, MD, Y. Correa Neto, MD, R. Gao, MD, L. C. Werneck, MD PhD and T. Ashizawa, MD

From the Neurology Service (Drs. Teive, Arruda, and Werneck) and Genetika Laboratory (Dr. Raskin), Federal University of Paraná, Curitiba, Brazil; Neurology Service (Dr. Correa Neto), Hospital Universitário, Florianópolis, Brazil; Baylor DNA Diagnostic Laboratory (Drs. Roa and Fang), Baylor College of Medicine, Houston, TX; and Department of Neurology (Drs. Gao and Ashizawa), University of Texas Medical Branch, Galveston, TX.

Address correspondence and reprint requests to Dr. Tetsuo Ashizawa, Department of Neurology, The University of Texas Medical Branch, 301 University Boulevard, JSA9.128, Galveston, TX 77555-0539; e-mail: teashiza{at}utmb.edu

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.

Received March 30, 2004. Accepted in final form June 10, 2004.

Presented in part at the 55th Annual Meeting of the American Academy of Neurology in Honolulu, HI, March 29 to April 5, 2003.




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