Spinal xanthomatosis: A variant of cerebrotendinous xanthomatosis

A. Verrips, G. J. Lycklama À Nijeholt, F. Barkhof, B. G.M. Van Engelen, P. Wesseling, J. A.F.M. Luyten, R. A. Wevers, J. Stam, J. H.J. Wokke, L. P.W.J. Van Den Heuvel, A. Keyser, F. J.M. Gabreëls

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

74 Citaten (Scopus)


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 found in these patients. We conclude that 'spinal xanthomatosis' is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of 'chronic myelopathy'.

Originele taal-2Engels
Pagina's (van-tot)1589-1595
Aantal pagina's7
Nummer van het tijdschrift8
StatusGepubliceerd - aug. 1999
Extern gepubliceerdJa


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