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Cortical neurodevelopment in pre-manifest Huntington's disease
Katharina M Kubera1, Mike M Schmitgen1, Dusan Hirjak2
1Center for Psychosocial Medicine, Department of General Psychiatry, Heidelberg University, Germany.
Neuroimage. Clinical
|September 8, 2019
Summary
Huntington's disease (HD) involves HTT CAG repeat expansion. In pre-symptomatic individuals, altered cortical folding suggests neurodevelopmental changes independent of neurodegeneration.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Huntington's disease (HD) is caused by the HTT CAG repeat expansion mutation, leading to neurodegeneration.
- In vitro studies suggest huntingtin also plays a role in neurodevelopment.
- This study investigates neurodevelopmental abnormalities in pre-symptomatic HD individuals (preHD).
Purpose of the Study:
- To test the hypothesis of neurodevelopmental abnormalities in preHD individuals.
- To investigate cortical folding complexity as a measure of neurodevelopment.
- To explore the relationship between cortical folding and neurodegeneration markers.
Main Methods:
- Utilized 3T MRI to assess individuals with CAG-expanded mutations (preHD) and healthy controls.
- Quantified local fractal dimension (FD) using spherical harmonic reconstructions to measure cortical folding complexity.
- Compared cortical folding patterns between preHD and control groups.
Main Results:
- Cortical folding complexity differed significantly between preHD and control groups in motor, visual, and temporal areas.
- No association was found between cortical folding complexity and putamen volume loss in preHD individuals.
- These findings suggest HTT CAG repeat length influences cortical development.
Conclusions:
- HTT CAG repeat expansion may impact cortical neurodevelopment processes.
- This influence on development appears independent of neurodegenerative processes in HD.
- Observed cortical folding changes in preHD were not clinically meaningful or indicative of developmental pathology.