Article
Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2012
Rubio-Agusti Ignacio, Kojovic Maja, Edwards Mark J, Murphy Elaine, Chandrashekar Hoskote S, Lachmann Robin H, Bhatia Kailash P
Abstract excerpt
Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of cholesterol metabolism. It presents with systemic and neurological symptoms, rarely including parkinsonism. Presented here are a clinical description of a new family with cerebrotendinous xanthomatosis and parkinsonism and a review of 13 additional cases reported in the literature. The index case developed corticobasal syndrome, previously...
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