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October 1985

Peripheral Neuropathy in Cerebrotendinous Xanthomatosis

Author Affiliations

From the Department of Pathology (Neuropathology) (Drs Katz and Horoupian) and the Saul Korey Department of Neurology (Dr Scheinberg), Albert Einstein College of Medicine, Rose F. Kennedy Center for Research in Mental Retardation and Human Development, and the Bronx (NY) Municipal Hospital Center; and the Department of Medicine, Veterans Administration Medical Center, East Orange, NJ (Dr Salen).

Arch Neurol. 1985;42(10):1008-1010. doi:10.1001/archneur.1985.04060090090022

• We performed a sural nerve biopsy in a patient with cerebrotendinous xanthomatosis (CTX) because of electrophysiologic evidence of peripheral neuropathy. The sections showed a striking loss of myelinated axons, the distribution of which suggested a compressive and/or ischemic process. Biochemical analysis disclosed large amounts of cholestanol, a cholesterol derivative that characteristically accumulates in CTX. However, the biochemical abnormality was not associated with any obvious structural alterations in the myelin lamellae or with abnormal storage material in Schwann's cells.

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