A case with CMTX1 disease showing transient ischemic-attack-like episodes

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dc.contributor.authorAktan, Zehra
dc.contributor.authorAkcakaya, Nihan Hande
dc.contributor.authorTekturk, Pinar
dc.contributor.authorDeniz, Engin
dc.contributor.authorKoyuncu, Bahar
dc.contributor.authorYapici, Zuhal
dc.date.accessioned2024-07-12T21:52:27Z
dc.date.available2024-07-12T21:52:27Z
dc.date.issued2018en_US
dc.departmentMaltepe Üniversitesien_US
dc.description.abstractCharcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents. Herein, neurological signs, MRI findings and genetic results of a CMTX1 case are presented and discussed. (c) 2017 Polish Neurological Society. Published by Elsevier Sp. z o.o. All rights reserved.en_US
dc.identifier.doi10.1016/j.pjnns.2017.10.016
dc.identifier.endpage288en_US
dc.identifier.issn0028-3843
dc.identifier.issue2en_US
dc.identifier.pmid29153916en_US
dc.identifier.scopus2-s2.0-85033798343en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage285en_US
dc.identifier.urihttps://dx.doi.org/10.1016/j.pjnns.2017.10.016
dc.identifier.urihttps://hdl.handle.net/20.500.12415/8372
dc.identifier.volume52en_US
dc.identifier.wosWOS:000428392000025en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherELSEVIER URBAN & PARTNER SP Z O Oen_US
dc.relation.ispartofNEUROLOGIA I NEUROCHIRURGIA POLSKAen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmzKY03095
dc.subjectTransient ischemic-attack-likeen_US
dc.subjectStroke-likeen_US
dc.subjectCMTX1en_US
dc.subjectGJB1en_US
dc.subjectPes cavusen_US
dc.titleA case with CMTX1 disease showing transient ischemic-attack-like episodesen_US
dc.typeArticle
dspace.entity.typePublication

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