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

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.