| Neurophysiological study in cerebrotendinous xanthomatosis. | |
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MedLine Citation:
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PMID: 21404287 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article |
Journal Detail:
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Title: Muscle & nerve Volume: 43 ISSN: 1097-4598 ISO Abbreviation: Muscle Nerve Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-03-15 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7803146 Medline TA: Muscle Nerve Country: United States |
Other Details:
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Languages: eng Pagination: 531-6 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Wiley Periodicals, Inc. |
Affiliation:
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Neurology Division, Hospital del Sureste, c/ Ronda del Sur s/n, 28500 Madrid, Spain. bpilodelafuente@yahoo.es. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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