AI Article Synopsis
- * A study involving 707 participants who had gene testing found that males with prodromal Huntington's disease exhibited a 4% smaller intracranial volume compared to non-gene expanded controls, suggesting developmental issues linked to the disease.
- * The findings indicate that the mutant huntingtin protein may lead to abnormal brain development, potentially playing a role in the disease's progression, particularly in males.
Article Abstract
Huntington's disease is an autosomal dominant brain disease. Although conceptualized as a neurodegenerative disease of the striatum, a growing number of studies challenge this classic concept of Huntington's disease aetiology. Intracranial volume is the tissue and fluid within the calvarium and is a representation of the maximal brain growth obtained during development. The current study reports intracranial volume obtained from an magnetic resonance imaging brain scan in a sample of subjects (n = 707) who have undergone presymptomatic gene testing. Participants who are gene-expanded but not yet manifesting the disease (prodromal Huntington's disease) are compared with subjects who are non-gene expanded. The prodromal males had significantly smaller intracranial volume measures with a mean volume that was 4% lower compared with controls. Although the prodromal females had smaller intracranial volume measures compared with their controls, this was not significant. The current findings suggest that mutant huntingtin can cause abnormal development, which may contribute to the pathogenesis of Huntington's disease.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025719 | PMC |
| http://dx.doi.org/10.1093/brain/awq280 | DOI Listing |
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