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Nat Rev Neurol. 2014 Apr;10(4):204-16. doi: 10.1038/nrneurol.2014.24. Epub 2014 Mar 11.

Huntington disease: natural history, biomarkers and prospects for therapeutics.

Author information

1
Division of Neurobiology, Johns Hopkins University, 600 North Wolfe Street, Baltimore, MD 21287, USA.
2
Seattle Children's Research Institute, USA.
3
University College London, UK.
4
University of Iowa, USA.
5
CHDI Management/CHDI Foundation, USA.
6
University of British Columbia, Canada.
7
Monash University, Australia.
8
George-Huntington-Institute, Germany.
9
University of Z├╝rich, Switzerland.
10
University of California, Los Angeles, USA.

Abstract

Huntington disease (HD) can be seen as a model neurodegenerative disorder, in that it is caused by a single genetic mutation and is amenable to predictive genetic testing, with estimation of years to predicted onset, enabling the entire range of disease natural history to be studied. Structural neuroimaging biomarkers show that progressive regional brain atrophy begins many years before the emergence of diagnosable signs and symptoms of HD, and continues steadily during the symptomatic or 'manifest' period. The continued development of functional, neurochemical and other biomarkers raises hopes that these biomarkers might be useful for future trials of disease-modifying therapeutics to delay the onset and slow the progression of HD. Such advances could herald a new era of personalized preventive therapeutics. We describe the natural history of HD, including the timing of emergence of motor, cognitive and emotional impairments, and the techniques that are used to assess these features. Building on this information, we review recent progress in the development of biomarkers for HD, and potential future roles of these biomarkers in clinical trials.

PMID:
24614516
DOI:
10.1038/nrneurol.2014.24
[Indexed for MEDLINE]

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