2022
DOI: 10.3233/jhd-210512
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Cortical Features in Child and Adolescent Carriers of Mutant Huntingtin (mHTT)

Abstract: Background: Molecular studies provide evidence that mutant huntingtin (mHTT) affects early cortical development; however, cortical development has not been evaluated in child and adolescent carriers of mHTT. Objective: To evaluate the impact of mHTT on the developmental trajectories of cortical thickness and surface area. Methods: Children and adolescents (6–18 years) participated in the KidsHD study. mHTT carrier status was determined for research purposes only to classify participants as gene expanded (GE) a… Show more

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Cited by 3 publications
(2 citation statements)
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“…Recent evidence showed neurodevelopmental consequences triggered by structural changes of MAPT and subsequently cortical morphology 42,43 . Similarly, neurodevelopmental evidence was also reported for KMT2E , 44 HTT 45 and FOXO3 46 . Nevertheless, all the novel loci need replication and further investigation in future studies of RD.…”
Section: Discussionmentioning
confidence: 68%
“…Recent evidence showed neurodevelopmental consequences triggered by structural changes of MAPT and subsequently cortical morphology 42,43 . Similarly, neurodevelopmental evidence was also reported for KMT2E , 44 HTT 45 and FOXO3 46 . Nevertheless, all the novel loci need replication and further investigation in future studies of RD.…”
Section: Discussionmentioning
confidence: 68%
“… 11–16 Moreover, analysis of post-mortem HD brains has shown that there is transcriptional dysregulation and somatic instability of the HTT CAG repeat in cortical neurons from HD expansion carriers. 17 However, a recent study including children and adolescents using a region of interest (ROI) approach, did not find significant differences in cortical thickness between HD expansion carriers and controls, 18 perhaps suggesting that these develop during early adulthood. 19 …”
Section: Introductionmentioning
confidence: 99%