Details

Autor(en) / Beteiligte

• Haines, J L
• Schut, L J
• Weitkamp, L R
• Thayer, M
• Anderson, V E

Titel

Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies

Ist Teil von

• Neurology, 1984-12, Vol.34 (12), p.1542

Ort / Verlag

United States

Erscheinungsjahr

1984

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.