Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.
Journal
Developmental medicine and child neurology
ISSN: 1469-8749
Titre abrégé: Dev Med Child Neurol
Pays: England
ID NLM: 0006761
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
accepted:
24
12
2019
pubmed:
16
2
2020
medline:
31
10
2020
entrez:
16
2
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
DCC Receptor
0
DCC protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
758-762Subventions
Organisme : European Research Council
Pays : International
Organisme : Australian NHMRC Boosting Dementia Research Leadership Fellowship
Pays : International
Organisme : Swiss National Science Foundation
Pays : Switzerland
Organisme : Melbourne Children's Clinician Scientist Fellowship
Pays : International
Organisme : AusDoCC
Pays : International
Organisme : Murdoch Children's Research Institute
Pays : International
Organisme : National Health and Medical Research Council
ID : GNT1059666
Pays : International
Organisme : Australian NHMRC Senior Practitioner Fellowship
Pays : International
Organisme : Australian NHMRC Principal Research Fellowship
Pays : International
Organisme : State Government of Victoria
Pays : International
Organisme : IRIISS
Pays : International
Organisme : University of Queensland Research Scholarship
Pays : International
Organisme : NHMRC IRIISS
Pays : International
Organisme : Queensland Brain Institute
Pays : International
Organisme : Victorian Government's Operational Infrastructure Support Program
Pays : International
Investigateurs
Amelia Ceslis
(A)
Emily Gibson
(E)
Kim Giraudat
(K)
Alissandra McIlroy
(A)
Lynn K Paul
(LK)
Vanessa Siffredi
(V)
Melanie Bahlo
(M)
Megan Barker
(M)
Eleonore Blondiaux
(E)
Timothy J Edwards
(TJ)
Catherine Garel
(C)
Solveig Heide
(S)
Boris Keren
(B)
Simone A Mandelstam
(SA)
Ashley Pl Marsh
(AP)
George McGillivray
(G)
Cyril Mignot
(C)
Marie-Laure Moutard
(ML)
Caroline Nava
(C)
Kate Pope
(K)
Agnès Rastetter
(A)
Sarah Em Stephenson
(SE)
Stéphanie Valence
(S)
Thierry Billette de Villemeur
(TB)
Amanda Wood
(A)
Vicki Anderson
(V)
Elliott H Sherr
(EH)
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2020 Mac Keith Press.
Références
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