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Late-onset SCA2: 33 CAG repeats are sufficient to cause disease

From the Division of Medical Genetics (Drs. Fernandez and Bird), Department of Medicine, the Departments of Psychiatry (Dr. Fernandez), Laboratory Medicine (Dr. La Spada, Mr. McClain, and Mr. Martinez), and Neurology (Drs. Lipe and Bird), University of Washington Medical Center, the Geriatrics Research Service (Drs. Lipe and Bird), Puget Sound VA Healthcare System, and the Section of Neurology (Dr. Ravits), Virginia Mason Medical Center, Seattle, Washington; and the Department of Pathology and Laboratory Medicine (Dr. Snow), Mayo Clinic, Rochester, Minnesota.

Address correspondence and reprint requests to Dr. Albert R. La Spada, Department of Laboratory Medicine, University of Washington Medical Center, Box 357110, Room NW 120, Seattle, WA 98195-7110; e-mail: laspada{at}u.washington.edu

SCA-2 is an autosomal dominant inherited disorder characterized by ataxia, slow saccades, and hyporeflexia. The authors evaluated a patient with a mild balance problem with a SCA-2 allele sized at 33 CAG repeats. The authors then ascertained her 91 year-old mother, who showed disease onset at age 86 with an SCA-2 allele of identical size. Their study indicates that 33 CAG repeats can be pathogenic at the SCA-2 locus, though such an allele may produce an extremely late onset and gradual rate of disease progression.

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