A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

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dc.authoridUzunhan, Tuğçe Aksu/0000-0003-0596-2690
dc.authoridAltuntaş, Cansu/0000-0002-1161-5145
dc.authorwosidUzunhan, Tuğçe Aksu/AAN-4010-2020
dc.authorwosidÇakar, Nafiye Emel/JRX-4283-2023
dc.authorwosidAltuntaş, Cansu/AGV-9547-2022
dc.contributor.authorAltuntas, Cansu
dc.contributor.authorUzunhan, Tugce Aksu
dc.contributor.authorErturk, Biray
dc.contributor.authorPetmezci, Mey Talip
dc.contributor.authorCakar, Nafiye Emel
dc.contributor.authorNoyan, Bilge
dc.contributor.authorDokucu, Ali Ihsan
dc.date.accessioned2024-05-19T14:45:50Z
dc.date.available2024-05-19T14:45:50Z
dc.date.issued2023
dc.departmentİstinye Üniversitesien_US
dc.description.abstractMitochondrial neurogastrointestinal encephalopathy (MNGIE) is a well-known mitochondrial depletion syndrome. Since Van Goethem et al. described MNGIE syndrome with pathogenic POLG1 mutations in 2003, POLG1 gene became a target for MNGIE patients. Cases with POLG1 mutations strikingly differ from classic MNGIE patients due to a lack of leukoencephalopathy. Here we present a female patient with very early onset disease and leukoencephalopathy compatible with classic MNGIE disease who turned out to have homozygous POLG1 mutation compatible with MNGIE-like syndrome, mitochondrial depletion syndrome type 4b.en_US
dc.identifier.doi10.1016/j.clineuro.2023.107712
dc.identifier.issn0303-8467
dc.identifier.issn1872-6968
dc.identifier.pmid37084649en_US
dc.identifier.scopus2-s2.0-85152651676en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org10.1016/j.clineuro.2023.107712
dc.identifier.urihttps://hdl.handle.net/20.500.12713/5362
dc.identifier.volume229en_US
dc.identifier.wosWOS:000984862700001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofClinical Neurology and Neurosurgeryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240519_kaen_US
dc.subjectMitochondrial Dna Depletion Syndromeen_US
dc.subjectMngie Syndromeen_US
dc.subjectLeukoencephalopathyen_US
dc.subjectGastroparesisen_US
dc.subjectInherited Peripheral Neuropathyen_US
dc.titleA very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathyen_US
dc.typeArticleen_US

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