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

doi:10.1093/brain/122.8.1589

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

Research output: Contribution to journal › Article › peer-review

77 Citations (Scopus)

Abstract

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'.

Original language	English
Pages (from-to)	1589-1595
Number of pages	7
Journal	Brain
Volume	122
Issue number	8
DOIs	https://doi.org/10.1093/brain/122.8.1589
Publication status	Published - Aug 1999
Externally published	Yes

Keywords

Cerebrotendinous xanthomatosis
MRI
Myelopathy
Pathology

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10.1093/brain/122.8.1589

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title = "Spinal xanthomatosis: A variant of cerebrotendinous xanthomatosis",

abstract = "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'.",

keywords = "Cerebrotendinous xanthomatosis, MRI, Myelopathy, Pathology",

author = "A. Verrips and {Lycklama {\`A} Nijeholt}, {G. J.} and F. Barkhof and {Van Engelen}, {B. G.M.} and P. Wesseling and Luyten, {J. A.F.M.} and Wevers, {R. A.} and J. Stam and Wokke, {J. H.J.} and {Van Den Heuvel}, {L. P.W.J.} and A. Keyser and Gabre{\"e}ls, {F. J.M.}",

year = "1999",

month = aug,

doi = "10.1093/brain/122.8.1589",

language = "English",

volume = "122",

pages = "1589--1595",

journal = "Brain",

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T1 - Spinal xanthomatosis

T2 - A variant of cerebrotendinous xanthomatosis

AU - Verrips, A.

AU - Lycklama À Nijeholt, G. J.

AU - Barkhof, F.

AU - Van Engelen, B. G.M.

AU - Wesseling, P.

AU - Luyten, J. A.F.M.

AU - Wevers, R. A.

AU - Stam, J.

AU - Wokke, J. H.J.

AU - Van Den Heuvel, L. P.W.J.

AU - Keyser, A.

AU - Gabreëls, F. J.M.

PY - 1999/8

Y1 - 1999/8

N2 - 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'.

AB - 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'.

KW - Cerebrotendinous xanthomatosis

KW - MRI

KW - Myelopathy

KW - Pathology

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JO - Brain

JF - Brain

IS - 8

ER -

Spinal xanthomatosis: A variant of cerebrotendinous xanthomatosis

Abstract

Keywords

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