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Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred
Author(s) -
Zoghbi Huda Y.,
Pollack Marilyn S.,
Lyons Leslie A.,
Ferrell Robert E.,
Daiger Stephen P.,
Beaudet Arthur L.
Publication year - 1988
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410230609
Subject(s) - human leukocyte antigen , age of onset , genetic linkage , locus (genetics) , genetics , recombination fraction , disease , spinocerebellar ataxia , ataxia , linkage (software) , biology , chromosome , medicine , gene mapping , antigen , gene , neuroscience
We studied a seven‐generation kindred with autosomal dominant spinocerebellar ataxia (SCA) to assess linkage relationships to multiple human leukocyte antigen (HLA) loci on the short arm of chromosome 6. Age at onset, clinical features, and course of the disease are described. Although the mean age of onset was 34 years in this family, in 6 of 41 affected individuals onset was below 15 years of age and was accompanied by the unique clinical features of mental retardation and rapid progression of disease. Linkage studies were performed on 93 individuals, and the results show strong evidence for linkage of the SCA locus to the HLA loci. A maximum logarithm of the odds score of 5.83 was found at a recombination fraction of 0.12. This is the first documentation of childhood onset in the HLA‐linked form of SCA.