Cell-mediated immunological status and association of genetic markers in hereditary cerebellar ataxia.
Sixteen unrelated patients with hereditary cerebellar ataxia (HCA) were studied for genetic association with HLA and sixteen other genetic markers. Cell mediated immunological status of these patients was also studied by in vitro lymphocyte transformation tests. HLA typing was done in five three-generation families of patients with autosomal dominant cerebellar ataxia (ADCA). Linkage between HLA and ADCA loci was analysed using LIPED. Negative lod scores were observed in all five families. This lack of evidence for linkage between the HLA and ADCA loci is attributed to genetic heterogeneity of the disease in the families studied. No significant deviation was found in lymphocyte function to mitogen/antigen stimulation. A possible association of B12 (B44) antigen with ADCA is suggested.
D002524:Cerebellar Ataxia / Q000235:genetics; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D008213:Lymphocyte Activation; D013132:Spinocerebellar Degenerations / Q000235:genetics*
D005819:Genetic Markers; D006680:HLA Antigens