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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
Body composition in premanifest Huntington's disease reveals lower bone density compared to controls
Anna O G Goodman1, Roger A Barker
1University of Cambridge.
Insights
Huntington's disease (HD) patients show lower bone density before symptoms appear. This early change, detected via DEXA scans, may serve as a biomarker for neurodegenerative diseases.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Huntington's disease (HD) is a fatal neurodegenerative disorder.
- Classical HD symptoms include motor, cognitive, and psychiatric issues.
- Unexplained weight loss is common in HD patients, but its cause is unclear.
Purpose of the Study:
- To investigate body composition changes in premanifest Huntington's disease.
- To compare bone mineral density in individuals with premanifest HD versus controls.
- To explore potential early biomarkers for Huntington's disease.
Main Methods:
- Dual-energy X-ray absorptiometry (DEXA) scans were used to assess body composition.
- 25 individuals with premanifest HD were compared to 25 control subjects.
- Hormonal and vitamin levels (testosterone, cortisol, leptin, Vitamin D) were analyzed.
Main Results:
- Premanifest HD individuals exhibited significantly lower bone mineral density z-scores compared to controls.
- This reduction in bone density was not linked to differences in testosterone, cortisol, leptin, or Vitamin D levels.
- Findings align with observations in the R6/2 transgenic mouse model of HD.
Conclusions:
- Reduced bone mineral density is an early, gene-related change in Huntington's disease.
- This finding suggests a potential biomarker for premanifest HD.
- The observed bone density changes may indicate a common pathological process across neurodegenerative diseases.
Abstract:
Huntington's disease (HD) is a debilitating autosomal dominant, neurodegenerative disease with a fatal prognosis. Classical features include motor disturbances, dementia and psychiatric problems but are not restricted to this triad as patients often experience other abnormalities such as unintended weight loss, the exact cause of which is unknown. We studied the body composition of 25 premanifest HD and compared it to 25 control subjects using a dual energy x-ray absorptiometer (DEXA) scan. Like the R6/2 transgenic mouse model, we identified significantly lower bone mineral density z-scores in premanifest individuals, that was not related to any difference in testosterone, cortisol, leptin or Vitamin D levels. These results identify an early gene-related change that occurs in HD which not only could lead to a potential biomarker for the disease, but given it is also seen in other manifest neurodegenerative diseases, could also reveal a common disease related process.
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