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Spinocerebellar ataxia in a large kindred

Age at onset, reproduction, and genetic linkage studies

From Dight Institute for Human Genetics (Drs. Haines and Anderson), University of Minnesota, Geriatric Research, Education, and Clinical Center (GRECC) (Drs. Schut and Thayer), Minneapolis Veterans Administration Medical Center, Minneapolis; and Department of Psychiatry, Division of Genetics, and Department of Pediatrics (Dr. Weitkamp), University of Rochester School of Medicine, Rochester, NY.

We studied a large kindred with autosomal dominant spinocerebellar ataxia (SCA) to assess reproductive performance, the impact of genetic counseling, and linkage relationships of the SCA locus. Reproduction was not lower in those with SCA than in unaffected sibs or first cousins. Genetic counseling reduced reproduction during the risk period for development of SCA. Given autosomal dominant transmission of a single gene, we found strong evidence that the locus for SCA in this kindred is linked to the HLA loci.

Address correspondence and reprint requests to Dr. Haines, Dight Institute for Human Genetics, University of Minnesota, Minneapolis, MN 55455.

Supported in part by grant 1-443 from the March of Dimes-Birth Defects Foundation.

Accepted for publication March 22, 1984.