title: Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients.
abstract: Neuromuscular characteristics were documented in ten patients with biochemically and genetically confirmed cerebrotendinous xanthomatosis. An array of genotypes was found in these patients. Only one patient complained of muscle weakness, while clinical signs of peripheral neuropathy were present in six patients. Electromyogram showed predominantly axonal neuropathy in seven patients. Neurogenic changes were seen in muscle biopsies of nine patients. Sural nerve biopsies of three patients showed features of axonal neuropathy. 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 that myopathy is not a feature of cerebrotendinous xanthomatosis and that the most prominent neuromuscular abnormality is sensorimotor axonal polyneuropathy.
authors.affiliation: Departments of Paediatric Neurology, University Hospital Nijmegen, PO Box 9101, 6500 HB, The, Nijmegen, Netherlands. a.verrips@ckskg.azn.nl
authors.forename: A
authors.initials: A
authors.lastname: Verrips
authors.forename: B G
authors.initials: BG
authors.lastname: van Engelen
authors.forename: H
authors.initials: H
authors.lastname: ter Laak
authors.forename: A
authors.initials: A
authors.lastname: Gabreëls-Festen
authors.forename: A
authors.initials: A
authors.lastname: Janssen
authors.forename: M
authors.initials: M
authors.lastname: Zwarts
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
mesh_terms: D000328:Adult; D001369:Axons / Q000473:pathology / Q000648:ultrastructure; D001706:Biopsy; D053493:Cholestanetriol 26-Monooxygenase; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D004576:Electromyography; D004579:Electron Transport; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology* / Q000648:ultrastructure; D009412:Nerve Fibers / Q000473:pathology* / Q000648:ultrastructure; D013250:Steroid Hydroxylases / Q000235:genetics; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D019294:Xanthomatosis, Cerebrotendinous / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*
chemical_list: D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase