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

journal contribution
posted on 2023-11-09, 04:43 authored by Megan Spencer-Smith, Jacquelyn L Knight, Emmanuelle Lacaze, 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, Agnes Rastetter, Sarah EM Stephenson, Stephanie Valence, Thierry Billette de Villemeur, Amanda WoodAmanda Wood, Vicki Anderson, Elliott H Sherr
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.

History

Journal

Developmental Medicine and Child Neurology

Volume

62

Pagination

758-762

Location

London, Eng.

ISSN

0012-1622

eISSN

1469-8749

Language

eng

Publication classification

C1.1 Refereed article in a scholarly journal

Issue

6

Publisher

Wiley