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Brain, Vol. 122, No. 8, 1589-1595, August 1999
© 1999 Oxford University Press

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

A. Verrips1, G. J. Lycklama à Nijeholt4, F. Barkhof4, B. G. M. Van Engelen1, P. Wesseling1,2, J. A. F. M. Luyten3, R. A. Wevers3, J. Stam5, J. H. J. Wokke6, L. P. W. J. van den Heuvel3, A. Keyser1 and F. J. M. Gabreëls1

1 Departments of Neurology, 2 Pathology and 3 Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, 4 Department of Diagnostic Radiology, Free University Hospital, 5 Department of Neurology, Academic Medical Center and 6 Department of Neurology, University Hospital, Utrecht, The Netherlands

Correspondence to: A. Verrips, MD, Department of Neurology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands E-mail: A.Verrips{at}czzoneu.azn.nl

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'.

cerebrotendinous xanthomatosis; myelopathy; MRI; pathology

CDCA = chenodeoxycholic acid; CTX = cerebrotendinous xanthomatosis; CYP 27 = sterol 27-hydroxylase; LFB-HE = luxol fast blue and haematoxylin and eosin; MNF = monoclonal anti-neurofilament antibody; SSCP = single strand conformation polymorphism


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