Article
Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease.
Neurology - 1 Feb 1994
Meiner V, Meiner Z, Reshef A, Björkhem I, Leitersdorf E
Abstract excerpt
We report an early molecular diagnosis of cerebrotendinous xanthomatosis (CTX) in a Jewish Moroccan family with two affected siblings. The proband displayed characteristic manifestations of the disease, whereas a younger brother, homozygous for the mutant allele, was asymptomatic. Clinical studies in the younger patient disclosed mild cognitive impairment, peripheral neuropathy, and abnormal EEG. Elevated plasma...
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