Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies.
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.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D012098:Reproduction; D013118:Spinal Cord Diseases / Q000235:genetics* / Q000503:physiopathology
D006680:HLA Antigens