Cerebrotendinous xanthomatosis - Controversies about nerve and muscle: observations in ten patients

Citation
A. Verrips et al., Cerebrotendinous xanthomatosis - Controversies about nerve and muscle: observations in ten patients, NEUROMUSC D, 10(6), 2000, pp. 407-414
Citations number
56
Categorie Soggetti
Neurosciences & Behavoir
Journal title
NEUROMUSCULAR DISORDERS
ISSN journal
09608966 → ACNP
Volume
10
Issue
6
Year of publication
2000
Pages
407 - 414
Database
ISI
SICI code
0960-8966(200008)10:6<407:CX-CAN>2.0.ZU;2-0
Abstract
Neuromuscular characteristics were documented in ten patients with biochemi cally and genetically confirmed cerebrotendinous xanthomatosis. An array of genotypes was found in these patients. Only one patient complained of musc le weakness, while clinical signs of peripheral neuropathy were present in six patients. Electromyogram showed predominantly axonal neuropathy in seve n patients. Neurogenic changes were seen in muscle biopsies of nine patient s. Sural nerve biopsies of three patients showed features of axonal neuropa thy. In addition, in one patient, extensive onion bulb formation was seen, which is indicative of a primarily demyelinating process. Five patients had normal mitochondrial respiratory chain enzyme activity. It is concluded th at myopathy is not a feature of cerebrotendinous xanthomatosis and that the most prominent neuromuscular abnormality is sensorimotor axonal polyneurop athy. (C) 2000 Elsevier Science B.V. All rights reserved.