| Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion. | |
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MedLine Citation:
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PMID: 15031668 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent pressure palsies. Most HNPP patients have a 1.5 mb deletion in chromosome 17p11.2-p12. The present study aimed at evaluating the deletion of the 17p11.2-p12 region in Korean subjects with families exhibiting HNPP phenotype, and to determine the clinical, electrophysiological and morphological aspects specifically associated with this deletion in HNPP patients. By genotyping six microsatellite markers (D17S921, D17S955, D17S1358, D17S839, D17S122 and D17S261), HNPP with the deletion was observed in 79% (19 of 24) of HNPP families. Nerve conduction studies were performed in 35 HNPP patients from these 19 families. The observed HNPP deletion frequency in Koreans is consistent with findings in other populations. Disease onset occurred at a significantly earlier age in patients with recurrent pressure palsies than in those with a single attack (P < 0.01). Nerve conduction studies demonstrated diffuse mild to moderate slowing of nerve conduction velocities that were worse over the common entrapment sites, regardless of the clinical manifestations. A long duration of compound muscle action potentials without a conduction block or a temporal dispersion is a characteristic of this disease. A sural nerve biopsy with teasing was performed in four patients, and tomacula of the myelin sheath was found in 56.4%. Our findings appear to support the existence of a phenotype/genotype correlation in HNPP patients of Korean ancestry with the deletion, and suggest that HNPP patients with earlier symptom onset face an increased chance of having recurrent attacks. |
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Authors:
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Seung Min Kim; Ki Wha Chung; Byung Ok Choi; Eui Soo Yoon; Jung Young Choi; Kee Duk Park; Il Nam Sunwoo |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Experimental & molecular medicine Volume: 36 ISSN: 1226-3613 ISO Abbreviation: Exp. Mol. Med. Publication Date: 2004 Feb |
Date Detail:
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Created Date: 2004-03-19 Completed Date: 2004-12-10 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 9607880 Medline TA: Exp Mol Med Country: Korea (South) |
Other Details:
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Languages: eng Pagination: 28-35 Citation Subset: IM |
Affiliation:
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Department of Neurology, College of Medicine, Yonsei University, Seoul 120-752, Korea. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Age of Onset Aged Charcot-Marie-Tooth Disease / genetics Child Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 17* DNA Mutational Analysis Electrophysiology Female Genotype Hereditary Sensory and Motor Neuropathy / genetics*, pathology, physiopathology Humans Korea Male Microsatellite Repeats Middle Aged Paralysis / genetics*, pathology, physiopathology Pedigree Phenotype Sural Nerve / pathology, physiopathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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