A. Verrips et al., Cerebrotendinous xanthomatosis - Controversies about nerve and muscle: observations in ten patients, NEUROMUSC D, 10(6), 2000, pp. 407-414
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.