Article
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
Brain : a journal of neurology - 1 Aug 1999
Verrips A, Nijeholt G J, Barkhof F, Van Engelen B G, Wesseling P, Luyten J A, Wevers R A, Stam J, Wokke J H, van den Heuvel L P, Keyser A, Gabreëls F J
Abstract excerpt
We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis (CTX). MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord. Post-mortem examination of one of the patients showed extensive myelin loss in these columns. An array of genotypes was...
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