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

Spencer-Smith, Megan and Knight, Jacquelyn L. and Lacaze, Emmanuelle and Depienne, Christel and Lockhart, Paul J. and Richards, Linda J. and Heron, Delphine and Leventer, Richard J. and Robinson, Gail A. and Ceslis, A. and Gibson, E. and Giraudaut, K. and McIlroy, A. and Paul, L. K. and Siffredi, V. and Bahlo, M. and Barker, M. and Blondiaux, E. and Edwards, T. J. and Garel, C. and Heide, S. and Keren, B. and Mandelstam, S. A. and Marsh, A. P. and McGillivray, G. and Mignot, C. and Moutard, M. L. and Nava, C. and Pope, K. and Rastetter, A. and Stephenson, S.E. and Valence, S. and de Villemeur, T. B. and Anderson, V. and Sherr, E. H. (2020) Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations. Developmental Medicine & Child Neurology, 62 (6). pp. 758-762. ISSN 0012-1622. doi:10.1111/dmcn.14486.

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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.

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Paul, L. K.0000-0002-3128-8313
Additional Information:© 2020 Mac Keith Press. Manuscript accepted: 24 December 2019. First published:14 February 2020. Funding Information: Queensland Brain Institute State Government of Victoria National Health and Medical Research Council. Grant Number: GNT1059666 IRIISS Victorian Government’s Operational Infrastructure Support Program NHMRC IRIISS Murdoch Children’s Research Institute AusDoCC Australian NHMRC Senior Practitioner Fellowship University of Queensland Research Scholarship Melbourne Children’s Clinician Scientist Fellowship Australian NHMRC Principal Research Fellowship Australian NHMRC Boosting Dementia Research Leadership Fellowship Swiss National Science Foundation European Research Council
Funding AgencyGrant Number
Queensland Brain InstituteUNSPECIFIED
State Government of VictoriaUNSPECIFIED
National Health and Medical Research Council (NHMRC)GNT1059666
Murdoch Children’s Research InstituteUNSPECIFIED
Australian Disorders of the Corpus Callosum (ausDoCC)UNSPECIFIED
University of QueenslandUNSPECIFIED
Melbourne Children’sUNSPECIFIED
Swiss National Science Foundation (SNSF)UNSPECIFIED
European Research Council (ERC)UNSPECIFIED
Issue or Number:6
Record Number:CaltechAUTHORS:20200227-160824285
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Official Citation:Spencer‐Smith, M., Knight, J.L., Lacaze, E., , Depienne, C., Lockhart, P.J., Richards, L.J., Heron, D., Leventer, R.J. and Robinson, G.A. (2020), Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations. Dev Med Child Neurol, 62: 758-762. doi:10.1111/dmcn.14486
Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:101628
Deposited By: Lynn Paul
Deposited On:28 Feb 2020 00:47
Last Modified:16 Nov 2021 18:04

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