Familial spinocerebellar ataxia with skin hyperpigmentation

Abstract

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 pro- gressive spastic paraparesis and cerebellar ataxia. All the siblings had large hyperpigmented naevi of the lower exteremities while none of the unaffected members had a skin losion. A definite association appears to exist between heredo-familial ataxias disordered skin pigmentation, but the exact mechanism remains unclear.