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Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia

From the Department of Neurology (Drs. Geschwind and Perlman), Reed Neurological Research Center, School of Medicine, University of California, Los Angeles; the Department of Pathology (Drs. Grody, Telatar, and Gatti), UCLA School of Medicine, Los Angeles; and the Centre Hospitalier Universitaire de Montréal (Drs. Montermini and Pandolfo), Department of Medicine (Dr. Pandolfo), University of Montreal, and Department of Neurology and Neurosurgery (Dr. Pandolfo), McGill University, Montreal, Quebec Canada.

Address correspondence and reprint requests to Dr. DAn Geschwind, Reed Neurological Research Center, 710 Westwood Plaza, UCLA School of Medicine, Los Angeles, CA, 90095-1769.

To explore the clinical heterogeneity associated with the Friedreich's ataxia (FRDA) expanded repeat and provide preliminary guidance for future gene testing in patients suspected of having FRDA, we tested patients with typical FRDA (group I), late-onset FRDA or FRDA with retained (group II), as well as those with early onset "non-Friedreich's" recessive or sporadic ataxia (group III). Eighty-seven percent of families in group I tested positive for the FRDA triplet repeat expansion. Thirty-six percent of families in group II demonstrated the FRDA expansion. Only one of 11 patients in group III had the FRDA expansion. Clinical criteria did not clearly distinguish between expansion-positive and expansion-negative individuals in group I and II. Minimal criteria that were present in all the patients who tested positive were recessive or sporadic inheritance, progressive caudal-rostral gait and limb ataxia, and at least one of the following: dysarthria, Babinski sign, or cardiomyopathy. This study confirms recent findings that some patients in group II can carry the FRDA mutation. However, we did not observe the FRDA expansion in 64% of group II families or in 13% of families with typical FRDA (group I), suggesting other genetic or environmental causes for their ataxia.

Supported by grants from the NIH NS011849 (D.H.G.), and NIH NS34192 (M.P.) fondation Notre Dame (M.P.), the Muscular Dystrophy Association, USA (M.P.), the Medical Research Council of Canada (L.M.), and the Ataxia Telangiectasia Medical Research Foundation (M.T. and R.A.G.).

Received January 28, 1997. Accepted in final form May 19, 1997.

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