Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/2891
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dc.contributor.authorTatlisumak, T-
dc.contributor.authorPutaala, J-
dc.contributor.authorInnilä, M-
dc.contributor.authorEnzinger, C-
dc.contributor.authorMetso, TM-
dc.contributor.authorCurtze, S-
dc.contributor.authorvon Sarnowski, B-
dc.contributor.authorAmaral-Silva, A-
dc.contributor.authorJungehulsing, GJ-
dc.contributor.authorTanislav, C-
dc.contributor.authorThijs, V-
dc.contributor.authorRolfs, A-
dc.contributor.authorNorrving, B-
dc.contributor.authorFazekas, F-
dc.contributor.authorSuomalainen, A-
dc.contributor.authorKolodny, EH-
dc.date.accessioned2018-02-06T16:17:03Z-
dc.date.available2018-02-06T16:17:03Z-
dc.date.issued2016-02-
dc.identifier.citationJ Neurol. 2016 Feb;263(2):257-262pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2891-
dc.description.abstractMitochondrial diseases, predominantly mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), may occasionally underlie or coincide with ischemic stroke (IS) in young and middle-aged individuals. We searched for undiagnosed patients with MELAS in a target subpopulation of unselected young IS patients enrolled in the Stroke in Young Fabry Patients study (sifap1). Among the 3291 IS patients aged 18-55 years recruited to the sifap1 study at 47 centers across 14 European countries, we identified potential MELAS patients with the following phenotypic features: (a) diagnosed cardiomyopathy or (b) presence of two of the three following findings: migraine, short stature (≤165 cm for males; ≤155 cm for females), and diabetes. Identified patients' blood samples underwent analysis of the common MELAS mutation, m.3243A>G in the MTTL1 gene of mitochondrial DNA. Clinical and cerebral MRI features of the mutation carriers were reviewed. We analyzed blood samples of 238 patients (177 with cardiomyopathy) leading to identification of four previously unrecognized MELAS main mutation carrier-patients. Their clinical and MRI characteristics were within the expectation for common IS patients except for severe hearing loss in one patient and hyperintensity of the pulvinar thalami on T1-weighted MRI in another one. Genetic testing for the m.3243A>G MELAS mutation in young patients with IS based on phenotypes suggestive of mitochondrial disease identifies previously unrecognized carriers of MELAS main mutation, but does not prove MELAS as the putative cause.pt_PT
dc.language.isoengpt_PT
dc.publisherSpringer Verlagpt_PT
dc.rightsopenAccesspt_PT
dc.subjectAdultpt_PT
dc.subjectDNA, Mitochondrialpt_PT
dc.subjectFemalept_PT
dc.subjectHeterozygotept_PT
dc.subjectHumanspt_PT
dc.subjectMELAS Syndromept_PT
dc.subjectMalept_PT
dc.subjectMiddle Agedpt_PT
dc.subjectMutationpt_PT
dc.subjectPhenotypept_PT
dc.subjectStrokept_PT
dc.subjectYoung Adultpt_PT
dc.subjectCHLC UCVpt_PT
dc.titleFrequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Populationpt_PT
dc.typearticlept_PT
dc.peerreviewedyespt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
degois.publication.firstPage257pt_PT
degois.publication.lastPage262pt_PT
degois.publication.issue2pt_PT
degois.publication.titleJournal of Neurologypt_PT
degois.publication.volume263pt_PT
dc.identifier.doi10.1007/s00415-015-7969-zpt_PT
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