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December 1969

Cholestanolosis (Cerebrotendinous Xanthomatosis): A Follow-Up Study on the Original Family

Author Affiliations

Los Angeles; Antwerpen, Belgium
From the departments of pediatrics, medicine (neurology), and psychiatry, UCLA School of Medicine, Los Angeles (Dr. Philippart), and the Department of Neuropathology, Born-Bunge Foundation, Berchem-Antwerpen, Belgium (Dr. van Bogaert).

Arch Neurol. 1969;21(6):603-610. doi:10.1001/archneur.1969.00480180059004

IN 1937, one of the authors (L.V.B.) published the first case of what has since come to be known as cerebrotendinous xanthomatosis (CTX).1 Subsequent clinical reports2-8 have confirmed the fact that we are dealing with a distinct clinical entity consisting of juvenile cataracts, tendinous xanthomas, and dull normal intelligence, often associated with a positive family history. This disease has a deteriorating course characterized by cerebellar ataxia after puberty, systemic spinal cord involvement and, finally, a pseudobulbar phase leading to death.

Despite this characteristic picture, some reports have included cases of cerebral arteriosclerosis,9-12 even though these patients did not have any cataracts. A few cases of this disorder have had hypercholesterolemia; however, in general, the serum cholesterol has been normal. Recently, biochemical examination of the brain has revealed cholestanol storage.13

The present report gives a complete clinical, pathological, and biochemical study of a relative of the

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