Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.

Autor: Spencer-Smith M; Turner Institute for Brain and Mental Health and School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Knight JL; School of Psychology, The University of Queensland, St Lucia, Brisbane, Australia., Lacaze E; Service de Neuropédiatrie, Centre de Référence pour les Malformations et Maladies Congénitales du Cervelet, Paris, France., Depienne C; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France., Lockhart PJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Richards LJ; Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia.; School of Biomedical Sciences, The University of Queensland, St. Lucia, Brisbane, Australia., Heron D; Department of Genetics, APHP, Armand-Trousseau and Pitié Salpêtrière Hospital, Paris, France.; Reference Center for Intellectual Disability of Rare Causes, Paris, France., Leventer RJ; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia., Robinson GA; School of Psychology, The University of Queensland, St Lucia, Brisbane, Australia.; Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia.
Jazyk: angličtina
Zdroj: Developmental medicine and child neurology [Dev Med Child Neurol] 2020 Jun; Vol. 62 (6), pp. 758-762. Date of Electronic Publication: 2020 Feb 14.
DOI: 10.1111/dmcn.14486
Abstrakt: Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsychological characteristics of 12 individuals from three families with pathogenic variants in DCC (aged 8-50y), who showed ACC and mirror movements (n=5), mirror movements only (n=2), ACC only (n=3), or neither ACC nor mirror movements (n=2). There was heterogeneity in the neurological and neuroimaging features on brain MRI, and performance across neuropsychological domains ranged from extremely low (impaired) to within normal limits (average). Our findings show that ACC and/or mirror movements are associated with low functioning in select neuropsychological domains and a DCC pathogenic variant alone is not sufficient to explain the disability. WHAT THIS PAPER ADDS: Neuropsychological impairment severity is related to presence of mirror movements and/or agenesis of the corpus callosum. A DCC pathogenic variant in isolation is associated with the best prognosis.
(© 2020 Mac Keith Press.)
Databáze: MEDLINE
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