Publication:
Electrophysiological characteristics of autosomal-recessive spastic ataxia of Charlevoix-Saguenay in a Turkish family

dc.contributor.coauthorMehdikhanova, L.
dc.contributor.coauthorŞirin, N.G.
dc.contributor.coauthorBilgiç, B.
dc.contributor.coauthorHanagasi, H.
dc.contributor.coauthorBasalo, M.B.
dc.contributor.coauthorOrhan, E.K.
dc.contributor.coauthorYazar, İ.K.
dc.contributor.departmentKUTTAM (Koç University Research Center for Translational Medicine)
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.schoolcollegeinstituteResearch Center
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T13:26:24Z
dc.date.issued2022
dc.description.abstractThe autosomal recessive spastic ataxia of CharlevoixSaguenay (ARSACS), presenting with spinocerebellar ataxia, dysarthria, nystagmus, and spastic paraparesis, is a gradually progressive hereditary disease. Sensorimotor polyneuropathy may also accompany the symptoms. Herein, we present the electrophysiologic findings of a Turkish family with ARSACS in combination with clinical and genetic features to better describe the characteristics of the polyneuropathy in ARSACS. Regarding the electrophysiologic findings, however, the demyelinating characteristics were prominent and there were findings compatible with secondary axonal degeneration. Rare hereditary diseases such as ARSACS must be suspected in the presence of polyneuropathies with demyelinating. / Charlevoix-Saguenay’ın otozomal resesif spastik ataksi sendromu (ARSCAS), spinoserebellar ataksi, dizartri, nistagmus ve spastik paraparezi ile seyreden ilerleyici bir herediter hastalıktır. Sensörimotor polinöropati semptomlara eşlik edebilir. Bu vaka serisinde, ARSACS’a eşlik eden polinöropatinin niteliklerinin daha iyi anlaşılması amacıyla, ARSACS’lı bir ailede klinik ve genetik özellikler ile birlikte elektrofizyolojik bulgular sunulmuştur. Elektrofizyolojik bulgular, demiyelinizan özellikte bir polinöropati sendromu varlığı ile uyumlu olsa da, hastalarda ikincil aksonal dejenerasyonu işaret eden bulgularda mevcuttu. Demiyelinizan özellikli bir polinöropatiye piramidal bulgular ve ataksi eşlik ettiğinde ARSACS gibi nadir herediter hastalıktan şüphelenilmelidir.
dc.description.fulltextYES
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyTR Dizin
dc.description.issue2
dc.description.openaccessYES
dc.description.publisherscopeNational
dc.description.sponsoredbyTubitakEuN/A
dc.description.sponsorshipScientific Research Projects Coordination Unit of Istanbul University
dc.description.versionPublisher version
dc.description.volume85
dc.identifier.doi10.26650/IUITFD.984032
dc.identifier.eissn1305-6441
dc.identifier.embargoNO
dc.identifier.filenameinventorynoIR03639
dc.identifier.quartileN/A
dc.identifier.scopus2-s2.0-85130586040
dc.identifier.urihttps://hdl.handle.net/20.500.14288/3482
dc.identifier.wos777017400020
dc.keywordsCharlevoix-Saguenay
dc.keywordsARSACS
dc.keywordsElectrodiagnosis
dc.keywordsDemyelinating polyneuropathy
dc.language.isoeng
dc.publisherİstanbul Üniversitesi Yayınevi
dc.relation.grantno37697
dc.relation.ispartofJournal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi
dc.relation.urihttp://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/10506
dc.subjectGeneral and internal medicine
dc.titleElectrophysiological characteristics of autosomal-recessive spastic ataxia of Charlevoix-Saguenay in a Turkish family
dc.title.alternativeCharlevoix-Saguenay’ın otozomal resesif spastik ataksi sendromu: bir Türk ailesinde elektrofizyolojik özellikler
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorBaşak, Ayşe Nazlı
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1Research Center
local.publication.orgunit2KUTTAM (Koç University Research Center for Translational Medicine)
local.publication.orgunit2School of Medicine
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relation.isOrgUnitOfPublicationd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isOrgUnitOfPublication.latestForDiscovery91bbe15d-017f-446b-b102-ce755523d939
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