Cerebellar ataxia and total albinism.
In this report a family is described where cerebellar ataxia occurred along with total albinism. A possibility of syntenic condition of the two genes responsible for the traits could explain the occurrence of the two conditions. The presence of two traits singly in the sibs reflects a recombinant event and suggests that the linkage is not absolute. Chromosomal study did not show any structural or numerical anomalies except in 1/50 metaphase plates scored in the proband (with cerebellar ataxia) where in chromosome No. 14 proximal intense band (21) seemed to be shifted, inv. (14) (q13q23?). The affected sibs with ataxia and albinism or ataxia alone depicted relatively a lower sister chromatid exchange (SCE) rate than their parents and age matched controls.
D000417:Albinism / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree