Garofalo, M.; Vansenne, F.; Sival, D.A.; Verbeek, D.S. Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders. Brain Sci.2023, 13, 1625.
Garofalo, M.; Vansenne, F.; Sival, D.A.; Verbeek, D.S. Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders. Brain Sci. 2023, 13, 1625.
Garofalo, M.; Vansenne, F.; Sival, D.A.; Verbeek, D.S. Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders. Brain Sci.2023, 13, 1625.
Garofalo, M.; Vansenne, F.; Sival, D.A.; Verbeek, D.S. Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders. Brain Sci. 2023, 13, 1625.
Abstract
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 remains 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 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 mech-anisms. 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 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.
Keywords
Developmental Coordination Disorder; DCD; Genetics; Movement Disorders; Pathogenetic Spectrum.
Subject
Medicine and Pharmacology, Neuroscience and Neurology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
