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Muscle Nerve. 2011 Apr;43(4):531-6. doi: 10.1002/mus.21905.

Neurophysiological study in cerebrotendinous xanthomatosis.

Author information

  • 1Neurology Division, Hospital del Sureste, c/ Ronda del Sur s/n, 28500 Madrid, Spain. bpilodelafuente@yahoo.es

Abstract

INTRODUCTION:

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive disease due to mutations of the 27α-hydroxylase. It is characterized by cataracts, xanthomas, and neurological manifestations. Polyneuropathy has been reported, although it is unclear whether it is axonal or demyelinating.

METHODS:

We report clinical and neurophysiological results of 13 patients with CTX diagnosed in Spain.

RESULTS:

In 8 patients (62%), peripheral neuropathy was demonstrated (4 demyelinating, 3 axonal, and 1 mixed; 3 predominantly motor and 5 sensorimotor). All patients had clinical signs/symptoms of peripheral neuropathy. Upper limb somatosensory evoked potentials (SSEPs) were affected in 38% of patients, and lower limb SSEPs in 67%. Fifty percent of patients had delayed brainstem auditory evoked potentials, and 43% had affected visual evoked potentials.

DISCUSSION:

In this series, polyneuropathy was predominantly sensorimotor and demyelinating. Neurophysiological studies correlated only partially with clinical follow-up. Therefore, we recommend neurophysiological follow-up studies only if clinical symptoms are present.

Copyright © 2011 Wiley Periodicals, Inc.

PMID:
21404287
[PubMed - indexed for MEDLINE]
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