Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders
Developmental Coordination Disorder (DCD) is a neurodevelopmental condition characterized by non-progressive central motor impairments. Mild movement disorder features have been observed in DCD. Until now, the etiology of DCD has been unclear. Recent studies suggested a genetic substrate in some pat...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-11-01
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| Series: | Brain Sciences |
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| Online Access: | https://www.mdpi.com/2076-3425/13/12/1625 |
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| author | Martinica Garofalo Fleur Vansenne Deborah A. Sival Dineke S. Verbeek |
| author_facet | Martinica Garofalo Fleur Vansenne Deborah A. Sival Dineke S. Verbeek |
| author_sort | Martinica Garofalo |
| collection | DOAJ |
| description | Developmental Coordination Disorder (DCD) is a neurodevelopmental condition characterized by non-progressive central motor impairments. Mild movement disorder features have been observed in DCD. Until now, the etiology of DCD has been unclear. Recent studies suggested a genetic substrate in some patients with DCD, but comprehensive knowledge about associated genes and underlying pathogenetic mechanisms is still lacking. In this study, we first identified genes described in the literature in patients with a diagnosis of DCD according to the official diagnostic criteria. Second, we exposed the underlying pathogenetic mechanisms of DCD, by investigating tissue- and temporal gene expression patterns and brain-specific biological mechanisms. Third, we explored putative shared pathogenetic mechanisms between DCD and frequent movement disorders with a known genetic component, including ataxia, chorea, dystonia, and myoclonus. We identified 12 genes associated with DCD in the literature, which are ubiquitously expressed in the central nervous system throughout brain development. These genes are involved in cellular processes, neural signaling, and nervous system development. There was a remarkable overlap (62%) in pathogenetic mechanisms between DCD-associated genes and genes linked with movement disorders. Our findings suggest that some patients might have a genetic etiology of DCD, which could be considered part of a pathogenetic movement disorder spectrum. |
| first_indexed | 2024-03-08T20:56:57Z |
| format | Article |
| id | doaj.art-9c9204058967468489416f9b66b59e54 |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-08T20:56:57Z |
| publishDate | 2023-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-9c9204058967468489416f9b66b59e542023-12-22T13:56:52ZengMDPI AGBrain Sciences2076-34252023-11-011312162510.3390/brainsci13121625Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement DisordersMartinica Garofalo0Fleur Vansenne1Deborah A. Sival2Dineke S. Verbeek3Department of Pediatric Neurology, Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The NetherlandsExpertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG), 9713 GZ Groningen, The NetherlandsDepartment of Pediatric Neurology, Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The NetherlandsExpertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG), 9713 GZ Groningen, The NetherlandsDevelopmental Coordination Disorder (DCD) is a neurodevelopmental condition characterized by non-progressive central motor impairments. Mild movement disorder features have been observed in DCD. Until now, the etiology of DCD has been unclear. Recent studies suggested a genetic substrate in some patients with DCD, but comprehensive knowledge about associated genes and underlying pathogenetic mechanisms is still lacking. In this study, we first identified genes described in the literature in patients with a diagnosis of DCD according to the official diagnostic criteria. Second, we exposed the underlying pathogenetic mechanisms of DCD, by investigating tissue- and temporal gene expression patterns and brain-specific biological mechanisms. Third, we explored putative shared pathogenetic mechanisms between DCD and frequent movement disorders with a known genetic component, including ataxia, chorea, dystonia, and myoclonus. We identified 12 genes associated with DCD in the literature, which are ubiquitously expressed in the central nervous system throughout brain development. These genes are involved in cellular processes, neural signaling, and nervous system development. There was a remarkable overlap (62%) in pathogenetic mechanisms between DCD-associated genes and genes linked with movement disorders. Our findings suggest that some patients might have a genetic etiology of DCD, which could be considered part of a pathogenetic movement disorder spectrum.https://www.mdpi.com/2076-3425/13/12/1625Developmental Coordination Disorder (DCD)geneticsmovement disorderspathogenetic spectrum |
| spellingShingle | Martinica Garofalo Fleur Vansenne Deborah A. Sival Dineke S. Verbeek Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders Brain Sciences Developmental Coordination Disorder (DCD) genetics movement disorders pathogenetic spectrum |
| title | Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders |
| title_full | Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders |
| title_fullStr | Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders |
| title_full_unstemmed | Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders |
| title_short | Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders |
| title_sort | pathogenetic insights into developmental coordination disorder reveal substantial overlap with movement disorders |
| topic | Developmental Coordination Disorder (DCD) genetics movement disorders pathogenetic spectrum |
| url | https://www.mdpi.com/2076-3425/13/12/1625 |
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