Familial spinocerebellar ataxia with skin hyperpigmentation.
Previous reports have shown the association between familial spastic paraplegia and hypopigmentation of the skin. A family is reported in which three siblings presented with progressive spastic paraparesis and cerebellar ataxia. All the siblings had large hyperpigmented naevi of the lower extremities while none of the unaffected members had a skin lesion. A definite association appears to exist between heredo-familial ataxias and disordered skin pigmentation, but the exact mechanism remains unclear.
D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000235:genetics; D009508:Nevus, Pigmented / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*; D010375:Pedigree; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome