Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation

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buir.contributor.authorDemirayak, Pınar
buir.contributor.authorOnat, Onur Emre
buir.contributor.authorDoerschner, Katja.
buir.contributor.authorÖzçelik, Tayfun
buir.contributor.authorBoyacı, Hüseyin
dc.citation.epage401en_US
dc.citation.issueNumber6en_US
dc.citation.spage392en_US
dc.citation.volumeNumber24en_US
dc.contributor.authorDemirayak, Pınaren_US
dc.contributor.authorOnat, Onur Emreen_US
dc.contributor.authorGevrekci, A. Ö.en_US
dc.contributor.authorGülsüner, S.en_US
dc.contributor.authorUysal, H.en_US
dc.contributor.authorBilgen, R.en_US
dc.contributor.authorDoerschner, Katjaen_US
dc.contributor.authorÖzçelik, Tayfunen_US
dc.contributor.authorBoyacı, Hüseyinen_US
dc.date.accessioned2019-02-21T16:09:21Z
dc.date.available2019-02-21T16:09:21Z
dc.date.issued2018en_US
dc.departmentInterdisciplinary Program in Neuroscience (NEUROSCIENCE)en_US
dc.departmentNational Magnetic Resonance Research Center (UMRAM)en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.departmentDepartment of Psychologyen_US
dc.departmentAysel Sabuncu Brain Research Center (BAM)en_US
dc.description.abstractPURPOSE Congenital mirror movement disorder (CMMD) is characterized by unintended, nonsuppressible, homologous mirroring activity contralateral to the movement on the intended side of the body. In healthy controls, unilateral movements are accompanied with predominantly contralateral cortical activity, whereas in CMMD, in line with the abnormal behavior, bilateral cortical activity is observed for unilateral motor tasks. However, task-related activities in subcortical structures, which are known to play critical roles in motor actions, have not been investigated in CMMD previously. METHODS We investigated the functional activation patterns of the motor components in CMMD patients. By using linkage analysis and exome sequencing, common mutations were revealed in seven affected individuals from the same family. Next, using functional magnetic resonance imaging (fMRI) we investigated cortical and subcortical activity during manual motor actions in two right-handed affected brothers and sex, age, education, and socioeconomically matched healthy individuals. RESULTS Genetic analyses revealed heterozygous RAD51 c.401C>T mutation which cosegregated with the phenotype in two affected members of the family. Consistent with previous literature, our fMRI results on these two affected individuals showed that mirror movements were closely related to abnormal cortical activity in M1 and SMA during unimanual movements. Furthermore, we have found previously unknown abnormal task-related activity in subcortical structures. Specifically, we have found increased and bilateral activity during unimanual movements in thalamus, striatum, and globus pallidus in CMMD patients. CONCLUSION These findings reveal further neural correlates of CMMD, and may guide our understanding of the critical roles of subcortical structures for unimanual movements in healthy individuals.
dc.description.sponsorshipThis work was funded by a grant of the Turkish National Scientific and Technological Council (TUBI-TAK 1001-108S355).
dc.identifier.doi10.5152/dir.2018.18096
dc.identifier.issn1305-3825
dc.identifier.urihttp://hdl.handle.net/11693/50457
dc.language.isoEnglish
dc.publisherTurkish Society of Radiology
dc.relation.isversionofhttps://doi.org/10.5152/dir.2018.18096
dc.relation.projectBilkent Üniversitesi - University of Washington, UW - School of Medicine - National Center for Atmospheric Research - National Council for Scientific Research, NCSR - 1001-108S355
dc.source.titleDiagnostic and Interventional Radiologyen_US
dc.titleAbnormal subcortical activity in congenital mirror movement disorder with RAD51 mutationen_US
dc.typeArticleen_US
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Aysel Sabuncu Brain Research Center (BAM)
Department of Molecular Biology and Genetics
Department of Philosophy
National Magnetic Resonance Research Center (UMRAM)