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Updated: Sep 30, 2025

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

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

Erin E Reasoner1, Ellen van der Plas1, Douglas R Langbehn1

  • 1Department of Psychiatry, University of Iowa Hospital and Clinics, Iowa City, IA, USA.

Journal of Huntington'S Disease
|March 11, 2022
PubMed

Insights

This study found that cortical development in children and adolescents carrying the mutant huntingtin (mHTT) gene appears normal. Despite molecular evidence of mHTT

Area of Science:

  • Neurodevelopmental biology
  • Genetics and neuroscience
  • Pediatric neuroimaging

Background:

  • Molecular studies suggest mutant huntingtin (mHTT) impacts early cortical development.
  • Cortical development in pediatric carriers of mHTT has not been previously evaluated.
  • Understanding mHTT's effects on developing brains is crucial for early intervention.

Purpose of the Study:

  • To investigate the impact of mHTT on the developmental trajectories of cortical thickness and surface area in children and adolescents.
  • To compare cortical development between gene-expanded (GE) and gene non-expanded (GNE) pediatric participants.
  • To identify potential associations between CAG repeat length and cortical morphometry.

Main Methods:

  • Participants included children and adolescents (6-18 years) from the KidsHD study.
  • mHTT carrier status was determined to classify participants as gene expanded (GE) or gene non-expanded (GNE).
  • Cortical features were extracted using FreeSurfer from 3T neuroimaging data.
  • Nonlinear mixed effects models analyzed associations between age, group, and CAG repeat length with cortical morphometry.

Main Results:

  • Age-related changes in cortical morphometry were found to be similar between GE and GNE groups.
  • No significant association was observed between expanded CAG repeat length and cortical features.
  • Cortical development trajectories did not significantly differ between carriers and non-carriers.

Conclusions:

  • Developmental changes in the cortex appear grossly normal in child and adolescent carriers of mHTT.
  • This contrasts with known marked differences in striatal development between GE and GNE individuals.
  • Findings suggest the cortex may be resilient to mHTT effects during early development.
Abstract

Keywords:
Huntington’s diseasechildren at risk for HDcortical developmentmagnetic resonance imagingtrinucleotide repeat disorder

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