Authors
Megan Spencer‐Smith, Jacquelyn L Knight, Emmanuelle Lacaze, Irc5 Consortium, Christel Depienne, Paul J Lockhart, Linda J Richards, Delphine Heron, Richard J Leventer, Gail A Robinson, 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, Elliott H Sherr
Publication date
2020/6
Journal
Developmental Medicine & Child Neurology
Volume
62
Issue
6
Pages
758-762
Description
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 …
Scholar articles
M Spencer‐Smith, JL Knight, E Lacaze… - Developmental Medicine & Child Neurology, 2020