New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family

A large inbred Lebanese pedigree with congenital spastic ataxia, microcepha ly, optic atrophy, short stature, speech defect, abnormal osmiophilic patte rn of skin vessels, cerebellar atrophy, and severe mental retardation trans mitted as an autosomal recessive trait has been studied. None of the childr en had any evidence of a metabolic disease, and the analysis of respiratory chain complex abnormalities was unremarkable, Only one child had a history of perinatal difficulties. Differential diagnosis and the possibility that this disorder is a hitherto unreported one are discussed. (C) 2001 Wiley-L iss, Inc.