期刊
BRAIN
卷 134, 期 -, 页码 137-142出版社
OXFORD UNIV PRESS
DOI: 10.1093/brain/awq280
关键词
brain; brain imaging; brain volumes
资金
- National Institutes for Health, National Institute of Neurological Disorders and Stroke [NS40068, NS054893, NS016375, NS050568, RR023392, NS055733]
- CHDI Foundation, Inc
- Roy J. Carver Charitable Trust
- Howard Hughes Medical Institute
- NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES [UL1TR000442] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [S10RR023392] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS040068, P01NS016375, R01NS050568, K23NS055733, P50NS016375] Funding Source: NIH RePORTER
- Medical Research Council [G0800784B, G0800784] Funding Source: researchfish
- MRC [G0800784] Funding Source: UKRI
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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