Document Detail

Neurophysiological study in cerebrotendinous xanthomatosis.
MedLine Citation:
PMID:  21404287     Owner:  NLM     Status:  In-Data-Review    
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.
Belen Pilo; Gema de Blas; Maria Jesus Sobrido; Carmen Navarro; Francisco Grandas; Francisco J Barrero; Miguel Angel Moya; Adriano Jimenez-Escrig
Related Documents :
11110567 - Nephrostomy tube after percutaneous nephrolithotomy: large-bore or pigtail catheter?
16946987 - Diagnostic contribution of virtual endoscopy in diseases of the upper airways.
17497757 - Risk factors in patients undergoing cricopharyngeal myotomy.
23691707 - Atazanavir induced first degree atrioventricular block and ventricular tachycardia: a c...
10866247 - Prehospital hypotension as a valid indicator of trauma team activation.
17374087 - Cardiovascular calcification in nondialyzed patients with chronic kidney disease.
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.
Neurology Division, Hospital del Sureste, c/ Ronda del Sur s/n, 28500 Madrid, Spain.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Fatigue leads to gait changes in spinal muscular atrophy.
Next Document:  Effect of knee position on quadriceps muscle force steadiness and activation strategies.