Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations
- Creators
- Spencer-Smith, Megan
- Knight, Jacquelyn L.
- Lacaze, Emmanuelle
- Depienne, Christel
- Lockhart, Paul J.
- Richards, Linda J.
- Heron, Delphine
- Leventer, Richard J.
- Robinson, Gail A.
- Ceslis, A.
- Gibson, E.
- Giraudaut, K.
- McIlroy, A.
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Paul, L. K.
- Siffredi, V.
- Bahlo, M.
- Barker, M.
- Blondiaux, E.
- Edwards, T. J.
- Garel, C.
- Heide, S.
- Keren, B.
- Mandelstam, S. A.
- Marsh, A. P.
- McGillivray, G.
- Mignot, C.
- Moutard, M. L.
- Nava, C.
- Pope, K.
- Rastetter, A.
- Stephenson, S.E.
- Valence, S.
- de Villemeur, T. B.
- Anderson, V.
- Sherr, E. H.
- IRC5 Consortium
Abstract
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.
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 CouncilAdditional details
- Eprint ID
- 101628
- Resolver ID
- CaltechAUTHORS:20200227-160824285
- Queensland Brain Institute
- State Government of Victoria
- National Health and Medical Research Council (NHMRC)
- GNT1059666
- Murdoch Children's Research Institute
- Australian Disorders of the Corpus Callosum (ausDoCC)
- University of Queensland
- Melbourne Children's
- Swiss National Science Foundation (SNSF)
- European Research Council (ERC)
- Created
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2020-02-28Created from EPrint's datestamp field
- Updated
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2021-11-16Created from EPrint's last_modified field