Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

• Published in: Brain (London, England : 1878) Vol. 122; no. 8; pp. 1589 - 1595
• Main Authors: Verrips, A., Lycklama à Nijeholt, G. J., Barkhof, F., Van Engelen, B. G. M., Wesseling, P., Luyten, J. A. F. M., Wevers, R. A., Stam, J., Wokke, J. H. J., van den Heuvel, L. P. W. J., Keyser, A., Gabreëls, F. J. M.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.08.1999; Oxford Publishing Limited (England)
• Subjects: Adult; Age of Onset; Biological and medical sciences; CDCA = chenodeoxycholic acid; Cerebellum - pathology; cerebrotendinous xanthomatosis; Cholestanetriol 26-Monooxygenase; CTX = cerebrotendinous xanthomatosis; CYP 27 = sterol 27-hydroxylase; Cytochrome P-450 Enzyme System - genetics; Errors of metabolism; Exons; Female; Genotype; Humans; Introns; LFB-HE = luxol fast blue and haematoxylin and eosin; Lipids (lysosomal enzyme disorders, storage diseases); Magnetic Resonance Imaging; Male; Medical sciences; Metabolic diseases; Middle Aged; MNF = monoclonal anti-neurofilament antibody; MRI; myelopathy; pathology; Point Mutation; Spinal Cord - pathology; Spinal Cord Diseases - genetics; Spinal Cord Diseases - pathology; SSCP = single strand conformation polymorphism; Steroid Hydroxylases - genetics; Xanthomatosis, Cerebrotendinous - genetics; Xanthomatosis, Cerebrotendinous - pathology; Human; Xanthomatosis; Nervous system diseases; Diseases of the osteoarticular system; Clinical form; Metabolic diseases; Genotype; Genetic determinism; Enzymopathy; Nuclear magnetic resonance imaging; Genetic disease; Pathology; Myelopathy; Central nervous system disease; Medical imagery; Adult; Diagnosis; Spinal cord disease; Brain (vertebrata); Tendon
• ISSN: 0006-8950; 1460-2156; 1460-2156
• DOI: 10.1093/brain/122.8.1589

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'.