Eyes on MEGDEL: Distinctive basal ganglia involvement in dystonia deafness syndrome

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dc.contributor.authorWortmann S.B.
dc.contributor.authorVan Hasselt P.M.
dc.contributor.authorBaric I.
dc.contributor.authorBurlina A.
dc.contributor.authorDarin N.
dc.contributor.authorHörster F.
dc.contributor.authorCoker M.
dc.contributor.authorKalkan Ucar S.
dc.contributor.authorKrumina Z.
dc.contributor.authorNaess K.
dc.contributor.authorNgu L.H.
dc.contributor.authorPronicka E.
dc.contributor.authorRiordan G.
dc.contributor.authorSanter R.
dc.contributor.authorWassmer E.
dc.contributor.authorZschocke J.
dc.contributor.authorSchiff M.
dc.contributor.authorDe Meirleir L.
dc.contributor.authorAlowain M.A.
dc.contributor.authorSmeitink J.A.M.
dc.contributor.authorMorava E.
dc.contributor.authorKozicz T.
dc.contributor.authorWevers R.A.
dc.contributor.authorWolf N.I.
dc.contributor.authorWillemsen M.A.
dc.date.accessioned2019-10-27T08:21:11Z
dc.date.available2019-10-27T08:21:11Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractPediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to the diagnosis. MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739) is a clinically and biochemically highly distinctive dystonia deafness syndrome accompanied by 3-methylglutaconic aciduria, severe developmental delay, and progressive spasticity. Mutations are found in SERAC1, encoding a phosphatidylglycerol remodeling enzyme essential for both mitochondrial function and intracellular cholesterol trafficking. Based on the homogenous phenotype, we hypothesized an accordingly characteristic MRI pattern. A total of 43 complete MRI studies of 30 patients were systematically reevaluated. All patients presented a distinctive brain MRI pattern with five characteristic disease stages affecting the basal ganglia, especially the putamen. In stage 1, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an eye that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. This eye was found in all patients with MEGDEL syndrome during a specific age range, and has not been reported in other disorders, making it pathognomonic for MEDGEL and allowing diagnosis based on MRI findings. © 2015 Georg Thieme Verlag KG Stuttgart New York.en_US
dc.identifier.doi10.1055/s-0034-1399755en_US
dc.identifier.endpage103en_US
dc.identifier.issn0174-304X
dc.identifier.issue2en_US
dc.identifier.pmid25642805en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage98en_US
dc.identifier.urihttps://doi.org/10.1055/s-0034-1399755
dc.identifier.urihttps://hdl.handle.net/11454/25945
dc.identifier.volume46en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherHippokrates Verlag GmbHen_US
dc.relation.ispartofNeuropediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject3-methylglutaconic aciduriaen_US
dc.subjectbasal ganglia involvementen_US
dc.subjectLeigh syndromeen_US
dc.subjectMEGDEL syndromeen_US
dc.subjectputamenen_US
dc.subjectSERAC1en_US
dc.titleEyes on MEGDEL: Distinctive basal ganglia involvement in dystonia deafness syndromeen_US
dc.typeArticleen_US

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