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      Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation

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      Author
      Demirayak, Pınar
      Onat, Onur Emre
      Gevrekci, A. Ö.
      Gülsüner, S.
      Uysal, H.
      Bilgen, R.
      Doerschner, Katja.
      Özçelik, Tayfun
      Boyacı, Hüseyin
      Date
      2018
      Source Title
      Diagnostic and Interventional Radiology
      Print ISSN
      1305-3825
      Publisher
      Turkish Society of Radiology
      Volume
      24
      Issue
      6
      Pages
      392 - 401
      Language
      English
      Type
      Article
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      Abstract
      PURPOSE 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.
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      http://hdl.handle.net/11693/50457
      Published Version (Please cite this version)
      https://doi.org/10.5152/dir.2018.18096
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      • Aysel Sabuncu Brain Research Center (BAM) 196
      • Department of Molecular Biology and Genetics 442
      • Department of Philosophy 185
      • National Magnetic Resonance Research Center (UMRAM) 195
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