title: HLA and complement typing in olivo-ponto-cerebellar atrophy.
abstract: HLA antigen typing was carried out in a family with an autosomal dominant form of spinocerebellar degeneration [possibly olivoponto cerebellar atrophy (O.P.C.A.)--Type 1]. Eleven ataxic patients, three possibly ataxic subjects, two unrelated spouses and 13 clinically normal at risk siblings were typed for ABO and Rh blood groups, HLA-A and HLA-B antigens, C4 component of the complement and a number of other serum proteins (Clq, beta-1A, beta-1C, C5, beta-lipoproteins). No solid evidence for linkage between the ataxia gene and the HLA or C4 loci could be demonstrated in this family. Certain serum proteins, and particularly beta-lipoproteins were found to be significantly reduced in some sub-groups of subjects.
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000276:immunology; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D003165:Complement System Proteins / Q000032:analysis*; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics* / Q000276:immunology; D006680:HLA Antigens / Q000032:analysis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009847:Olivary Nucleus / Q000473:pathology*; D010375:Pedigree; D011149:Pons / Q000473:pathology*
chemical_list: D006680:HLA Antigens; D003165:Complement System Proteins