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• W2091279640 abstract "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." @default.
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• W2091279640 date "1988-06-01" @default.
• W2091279640 modified "2023-10-03" @default.
• W2091279640 title "Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred" @default.
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• W2091279640 doi "https://doi.org/10.1002/ana.410230609" @default.
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