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. 2022;11(2):173-178.
doi: 10.3233/JHD-210512.

Cortical Features in Child and Adolescent Carriers of Mutant Huntingtin (mHTT)

Erin E Reasoner  1 , Ellen van der Plas  1 , Douglas R Langbehn  1 , Amy L Conrad  2 , Timothy R Koscik  1 , Eric A Epping  1 , Vincent A Magnotta  1   3 , Peggy C Nopoulos  1   2   4
Affiliations

Cortical Features in Child and Adolescent Carriers of Mutant Huntingtin (mHTT)

Erin E Reasoner et al. J Huntingtons Dis. 2022.

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) and gene non-expanded (GNE). Cortical features were extracted from 3T neuroimaging using FreeSurfer. Nonlinear mixed effects models were conducted to determine if age, group, and CAG repeat were associated with cortical morphometry.

Results: Age-related changes in cortical morphometry were similar across groups. Expanded CAG repeat was not significantly associated with cortical features.

Conclusion: While striatal development is markedly different in GE and GNE, developmental change of the cortex appears grossly normal among child and adolescent carrier of mHTT.

Keywords: Huntington’s disease; children at risk for HD; cortical development; magnetic resonance imaging; trinucleotide repeat disorder.

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Conflict of interest statement

Conflict of Interest

The authors report no other conflicts of interest relevant to this work.

Figures

Figure 1
Figure 1. Developmental trajectory of cortical thickness and surface area by group.
Mean estimated age-dependent change in cortical features in the gene non-expanded (GNE; grey) and gene-expanded (GE; black) groups. On the y-axis, cortical thickness (left) and surface area (right) are centered around sex-adjusted estimates from mixed effects models with natural cubic spline transformations of age.
See this image and copyright information in PMC

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