TY - JOUR
T1 - Callosal agenesis and congenital mirror movements
T2 - outcomes associated with DCC mutations
AU - IRC5 Consortium
AU - Spencer-Smith, Megan
AU - Knight, Jacquelyn L.
AU - Lacaze, Emmanuelle
AU - Depienne, Christel
AU - Lockhart, Paul J.
AU - Richards, Linda J.
AU - Heron, Delphine
AU - Leventer, Richard J.
AU - Robinson, Gail A.
N1 - Funding Information:
Members and affiliates of the IRC5 Consortium and associated individuals for this work are as follows: Amelia Ceslis, Emily Gibson, Kim Giraudat, Alissandra McIlroy, Lynn K Paul, Vanessa Siffredi, Melanie Bahlo, Megan Barker, Eleonore Blondiaux, Timothy J Edwards, Catherine Garel, Solveig Heide, Boris Keren, Simone A Mandelstam, Ashley PL Marsh, George McGillivray, Cyril Mignot, Marie-Laure Moutard, Caroline Nava, Kate Pope, Agn?s Rastetter, Sarah EM Stephenson, St?phanie Valence, Thierry Billette de Villemeur, Amanda Wood, Vicki Anderson, and Elliott H Sherr. This work was funded in part by National Health and Medical Research Council (NHMRC) Australia Project grant GNT1059666, the Victorian Government?s Operational Infrastructure Support Program, the NHMRC IRIISS, the Murdoch Children?s Research Institute, The Queensland Brain Institute, and AusDoCC. Professor Vicki Anderson was supported by Australian NHMRC Senior Practitioner Fellowship. Dr Timothy Edwards was supported by a University of Queensland Research Scholarship. A/Professor Richard Leventer was supported by a Melbourne Children?s Clinician Scientist Fellowship. Dr Ashley Marsh was supported by an Australian Postgraduate Award. Professor Linda Richards was supported by an Australian NHMRC Principal Research Fellowship. A/Professor Gail Robinson was supported by an Australian NHMRC Boosting Dementia Research Leadership Fellowship. Dr Vanessa Siffredi was supported by the Swiss National Science Foundation Doc.CH Scholarship. Professor Amanda Wood was supported by a European Research Council Consolidator Fellowship (632784). The authors have no conflict of interest and no competing financial interests to disclose.
Funding Information:
Members and affiliates of the IRC5 Consortium and associated individuals for this work are as follows: Amelia Ceslis, Emily Gibson, Kim Giraudat, Alissandra McIlroy, Lynn K Paul, Vanessa Siffredi, Melanie Bahlo, Megan Barker, Eleonore Blondiaux, Timothy J Edwards, Catherine Garel, Solveig Heide, Boris Keren, Simone A Mandelstam, Ashley PL Marsh, George McGillivray, Cyril Mignot, Marie‐Laure Moutard, Caroline Nava, Kate Pope, Agnès Rastetter, Sarah EM Stephenson, Stéphanie Valence, Thierry Billette de Villemeur, Amanda Wood, Vicki Anderson, and Elliott H Sherr. This work was funded in part by National Health and Medical Research Council (NHMRC) Australia Project grant GNT1059666, the Victorian Government’s Operational Infrastructure Support Program, the NHMRC IRIISS, the Murdoch Children’s Research Institute, The Queensland Brain Institute, and AusDoCC. Professor Vicki Anderson was supported by Australian NHMRC Senior Practitioner Fellowship. Dr Timothy Edwards was supported by a University of Queensland Research Scholarship. A/Professor Richard Leventer was supported by a Melbourne Children’s Clinician Scientist Fellowship. Dr Ashley Marsh was supported by an Australian Postgraduate Award. Professor Linda Richards was supported by an Australian NHMRC Principal Research Fellowship. A/Professor Gail Robinson was supported by an Australian NHMRC Boosting Dementia Research Leadership Fellowship. Dr Vanessa Siffredi was supported by the Swiss National Science Foundation Doc.CH Scholarship. Professor Amanda Wood was supported by a European Research Council Consolidator Fellowship (632784). The authors have no conflict of interest and no competing financial interests to disclose.
Publisher Copyright:
© 2020 Mac Keith Press
PY - 2020/6/1
Y1 - 2020/6/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85079480027&partnerID=8YFLogxK
U2 - 10.1111/dmcn.14486
DO - 10.1111/dmcn.14486
M3 - Article
C2 - 32060908
AN - SCOPUS:85079480027
SN - 0012-1622
VL - 62
SP - 758
EP - 762
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology
IS - 6
ER -