Magnetic resonance imaging of Huntington's disease: preparing for clinical trials.

Details

Serval ID
serval:BIB_B3DA69FEA810
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Magnetic resonance imaging of Huntington's disease: preparing for clinical trials.
Journal
Neuroscience
Author(s)
Klöppel S., Henley S.M., Hobbs N.Z., Wolf R.C., Kassubek J., Tabrizi S.J., Frackowiak R.S.
ISSN
1873-7544[electronic]
Publication state
Published
Issued date
2009
Peer-reviewed
Oui
Volume
164
Number
1
Pages
205-219
Language
english
Abstract
The known genetic mutation causing Huntington's disease (HD) makes this disease an important model to study links between gene and brain function. An autosomal dominant family history and the availability of a sensitive and specific genetic test allow pre-clinical diagnosis many years before the onset of any typical clinical signs. This review summarizes recent magnetic resonance imaging (MRI)-based findings in HD with a focus on the requirements if imaging is to be used in treatment trials. Despite its monogenetic cause, HD presents with a range of clinical manifestations, not explained by variation in the number of CAG repeats in the affected population. Neuroimaging studies have revealed a complex pattern of structural and functional changes affecting widespread cortical and subcortical regions far beyond the confines of the striatal degeneration that characterizes this disorder. Besides striatal dysfunction, functional imaging studies have reported a variable pattern of increased and decreased activation in cortical regions in both pre-clinical and clinically manifest HD-gene mutation carriers. Beyond regional brain activation changes, evidence from functional and diffusion-weighted MRI further suggests disrupted connectivity between corticocortical and corticostriatal areas. However, substantial inconsistencies with respect to structural and functional changes have been reported in a number of studies. Possible explanations include methodological factors and differences in study samples. There may also be biological explanations but these are poorly characterized and understood at present. Additional insights into this phenotypic variability derived from study of mouse models are presented to explore this phenomenon.
Pubmed
Web of science
Open Access
Yes
Create date
11/01/2010 13:13
Last modification date
20/08/2019 15:22
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