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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
Published on: June 9, 2018
Volumetric analysis of the hypothalamus in Huntington Disease using 3T MRI: the IMAGE-HD Study
Sanaz Gabery1, Nellie Georgiou-Karistianis2, Sofia Hult Lundh1
1Translational Neuroendocrine Research Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden.
Insights
Huntington disease (HD) brain imaging reveals no changes in hypothalamic volume, despite known hypothalamic dysfunction. This suggests that volume is not the primary indicator of pathology in this brain region for HD patients.
Area of Science:
- Neuroimaging
- Neurodegenerative Diseases
- Neuroanatomy
Background:
- Huntington disease (HD) is a fatal neurodegenerative disorder linked to CAG repeat expansion in the huntingtin gene.
- Non-motor symptoms like psychiatric, sleep, and metabolic issues in HD may stem from hypothalamic changes.
- Previous studies indicated hypothalamic pathology in early symptomatic HD via MRI and PET.
Purpose of the Study:
- To develop a reliable MRI method for measuring hypothalamic volume in Huntington disease.
- To investigate if hypothalamic dysfunction in HD correlates with changes in its volume.
- To assess cross-sectional and longitudinal volume changes in the hypothalamus across HD progression stages.
Main Methods:
- Utilized T1-weighted MRI scans from the IMAGE-HD study.
- Developed a reproducible hypothalamic delineation procedure based on histological landmarks.
- Analyzed data from 36 prodromal HD, 33 symptomatic HD, and 33 control participants at baseline and 18-month follow-up.
Main Results:
- No significant cross-sectional differences in hypothalamic volume were found between prodromal HD, symptomatic HD, and control groups.
- Longitudinal analysis over 18 months showed no significant volume changes in the hypothalamus for any group.
- The study found no association between hypothalamic volume and the observed dysfunction in Huntington disease.
Conclusions:
- Hypothalamic pathology in Huntington disease does not appear to be associated with measurable volume changes.
- The developed MRI method provides a reproducible way to assess hypothalamic volume.
- Further research is needed to understand the mechanisms of hypothalamic dysfunction in HD beyond structural volume alterations.
Abstract:
Huntington disease (HD) is a fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. Non-motor symptoms and signs such as psychiatric disturbances, sleep problems and metabolic dysfunction are part of the disease manifestation. These aspects may relate to changes in the hypothalamus, an area of the brain involved in the regulation of emotion, sleep and metabolism. Neuropathological and imaging studies using both voxel-based morphometry (VBM) of magnetic resonance imaging (MRI) as well as positron emission tomography (PET) have demonstrated pathological changes in the hypothalamic region during early stages in symptomatic HD. In this investigation, we aimed to establish a robust method for measurements of the hypothalamic volume in MRI in order to determine whether the hypothalamic dysfunction in HD is associated with the volume of this region. Using T1-weighted imaging, we describe a reproducible delineation procedure to estimate the hypothalamic volume which was based on the same landmarks used in histologically processed postmortem hypothalamic tissue. Participants included 36 prodromal HD (pre-HD), 33 symptomatic HD (symp-HD) and 33 control participants who underwent MRI scanning at baseline and 18 months follow-up as part of the IMAGE-HD study. We found no evidence of cross-sectional or longitudinal changes between groups in hypothalamic volume. Our results suggest that hypothalamic pathology in HD is not associated with volume changes.
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