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Neurology 2001;57:1310-1312
© 2001 American Academy of Neurology
Brief Communications

SCA8 repeat expansions in ataxia: A controversial association

M.-J. Sobrido, MD PhD;, J. A. Cholfin, BS, S. Perlman, MD, S. M. Pulst, MD and D. H. Geschwind, MD PhD

From the Neurogenetics Program (Drs. Sobrido, Perlman, Geschwind, and J. Cholfin), Department of Neurology, UCLA School of Medicine; and Division of Neurology (Dr. Pulst), Cedars–Sinai Medical Center, Los Angeles, CA.

Address correspondence and reprint requests to Dr. D.H. Geschwind, UCLA Department of Neurology, 710 Westwood Plaza, Los Angeles, CA 90095; e-mail: dhg{at}ucla.edu

The observation of large SCA8 alleles in healthy control subjects and nonataxic patients, together with a lack of segregation of the expanded repeat with ataxia in several families, has raised questions about the pathogenic role of the SCA8 expansion. The authors found allele sizes within the proposed pathogenic range in three patients with ataxia of unknown etiology, in two individuals from pedigrees with either SCA2 or Friedreich’s ataxia, and in two patients with Alzheimer’s disease. Sizing of SCA8 alleles should not be a routine diagnostic test until its etiologic role is clarified and the pathogenic threshold is determined.




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