ArticleDiagnostic and interventional radiology (Ankara, Turkey)2018
Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation.
Article in Diagnostic and interventional radiology (Ankara, Turkey), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 9 citations in OpenAlex.
- Upper arm movements in the last days of life: A new possible sign of impending death.Palliative & supportive care · 2025Article
- New candidate region for mirror hand movements: two patients with terminal 9p deletion and 20p duplication.Molecular biology reports · 2024Article
- Noncanonical Roles of RAD51.Cells · 2023Review
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Authors and funding
9 authors at 4 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
purposeCongenital 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.
methodsWe 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.
resultsGenetic 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.
conclusionThese 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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