Document Detail


Neurophysiological study in cerebrotendinous xanthomatosis.
MedLine Citation:
PMID:  21404287     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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. Muscle Nerve 43: 531-536, 2011.
Authors:
Belen Pilo; Gema de Blas; Maria Jesus Sobrido; Carmen Navarro; Francisco Grandas; Francisco J Barrero; Miguel Angel Moya; Adriano Jimenez-Escrig
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Muscle & nerve     Volume:  43     ISSN:  1097-4598     ISO Abbreviation:  Muscle Nerve     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-03-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  United States    
Other Details:
Languages:  eng     Pagination:  531-6     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Wiley Periodicals, Inc.
Affiliation:
Neurology Division, Hospital del Sureste, c/ Ronda del Sur s/n, 28500 Madrid, Spain. bpilodelafuente@yahoo.es.
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