| Peripheral neuropathy in CADASIL. | |
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MedLine Citation:
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PMID: 15827866 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene. The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse. OBJECTIVE: To assess peripheral neuropathy in patients with CADASIL. PATIENTS AND METHODS: We enrolled eleven CADASIL patients with variable phenotype including clinical signs of peripheral nerve involvement. In all patients electromyography and nerve conduction velocities were performed. Peripheral nerve biopsy was performed in three cases. RESULTS: We found sensory motor neuropathy in 7/11 patients. Nerve biopsy revealed axonal and demyelinated findings. CONCLUSION: Our findings suggest that peripheral neuropathy may be part of the CADASIL phenotype. |
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Authors:
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Francesco Sicurelli; Maria Teresa Dotti; Nicola De Stefano; Alessandro Malandrini; Mauro Mondelli; Silvia Bianchi; Antonio Federico |
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Publication Detail:
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Type: Case Reports; Comparative Study; Journal Article Date: 2005-04-15 |
Journal Detail:
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Title: Journal of neurology Volume: 252 ISSN: 0340-5354 ISO Abbreviation: J. Neurol. Publication Date: 2005 Oct |
Date Detail:
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Created Date: 2005-10-17 Completed Date: 2006-02-06 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0423161 Medline TA: J Neurol Country: Germany |
Other Details:
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Languages: eng Pagination: 1206-9 Citation Subset: IM |
Affiliation:
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Dept. of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Action Potentials Adult Aged Axons / pathology Biopsy CADASIL / diagnosis, pathology* Case-Control Studies Electromyography Electrophysiology Female Humans Male Middle Aged Muscle, Skeletal / innervation Myelin Sheath / pathology Nerve Fibers / pathology Neural Conduction Peripheral Nervous System Diseases / pathology*, physiopathology, surgery Phenotype Prospective Studies Sural Nerve / pathology, physiology, surgery |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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