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Updated: Jan 4, 2026
Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
Published on: June 9, 2018
Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis
Fumio Suzuki1, Noriko Sato2, Miho Ota3
1Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan; Department of Radiology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
Voxel-based morphometry (VBM) analysis can differentiate chorea-acanthocytosis from Huntington's disease by identifying distinct patterns of white matter atrophy. This neuroimaging technique aids in diagnosing these similar neurological disorders.
Area of Science:
- Neuroimaging
- Neurology
- Genetics
Background:
- Chorea-acanthocytosis and Huntington's disease share similar clinical symptoms and MRI findings, complicating diagnosis.
- Distinguishing between these conditions is crucial for appropriate patient management and treatment.
Purpose of the Study:
- To evaluate the effectiveness of single-case voxel-based morphometry (VBM) analysis in differentiating chorea-acanthocytosis from Huntington's disease.
- To compare VBM findings with clinical data and genetic analysis.
Main Methods:
- Single-case VBM analysis was performed on five chorea-acanthocytosis patients and 11 Huntington's disease patients.
- Gray and white matter atrophy patterns were analyzed for individual patients and group comparisons.
- Genetic testing identified novel mutations in a chorea-acanthocytosis patient.
Main Results:
- All patients showed gray matter volume loss in the caudate nucleus.
- Chorea-acanthocytosis patients exhibited characteristic symmetrical white matter volume loss in the globus pallidus, putamen, and thalamus, not observed in Huntington's disease patients.
- VBM analysis revealed significant gray matter loss in the caudate nucleus and more extensive white matter loss around the basal ganglia and thalamus in chorea-acanthocytosis compared to Huntington's disease.
Conclusions:
- Single-case VBM analysis is a valuable tool for differentiating chorea-acanthocytosis from Huntington's disease.
- The distinct pattern of white matter atrophy identified by VBM is key to this differentiation.
