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van Hellenberg Hubar JL, Joosten EM, Wevers RA. Cerebrotendinous xanthomatosis. Clin Neurol Neurosurg. 1992;94:S165-7doi: 10.1016/0303-8467(92)90059-c.
van Hellenberg Hubar, J. L., Joosten, E. M., & Wevers, R. A. (1992). Cerebrotendinous xanthomatosis. Clinical neurology and neurosurgery, 94S165-7. https://doi.org/10.1016/0303-8467(92)90059-c
van Hellenberg Hubar, J L, et al. "Cerebrotendinous xanthomatosis." Clinical neurology and neurosurgery vol. 94 (1992): S165-7. doi: https://doi.org/10.1016/0303-8467(92)90059-c
van Hellenberg Hubar JL, Joosten EM, Wevers RA. Cerebrotendinous xanthomatosis. Clin Neurol Neurosurg. 1992;94:S165-7. doi: 10.1016/0303-8467(92)90059-c. PMID: 1320501.
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Elsevier Science

Clin Neurol Neurosurg. 1992;94:S165-7. doi: 10.1016/0303-8467(92)90059-c.

Cerebrotendinous xanthomatosis.

Clinical neurology and neurosurgery

J L van Hellenberg Hubar, E M Joosten, R A Wevers

Affiliations

  1. Department of Neurology and Clinical Neurophysiology, University Hospital, Leiden, The Netherlands.

PMID: 1320501 DOI: 10.1016/0303-8467(92)90059-c

Abstract

Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas. The presence of xanthomas usually leads to the diagnosis, and the reverse is probably also true: without xanthomas the diagnosis will often not be made. CTX may therefore be less rare than commonly thought, and the incidence of xanthomas in CTX may be overestimated. Four cases without xanthomas among the presenting symptoms are described, and the relevance of xanthomas in CTX is discussed.

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