HLA—Determination in Families with Hereditary Ataxia

Abstract

HLA antigens were determined in 25 members of 3 families with autosomal dominant hereditary ataxia [spino cerebellar ataxia, (SCA)]. In 2 of the families, HLA linkage of disease was suggested, but in the 3rd family, the data did not directly support this concept, and 2 recombinational events between the postulated locus for disease and the HLA region had to be assumed. With this assumption, the data are compatible with those of a family recently described (Jackson et al., 1977) implying the presence on the 6th chromosome, outside the HLA region, of a locus that determines the development of SCA. Further tests with definition of enzyme markers must be performed before conclusions as to HLA linkage of a postulated SCA gene can be made.