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Early Detection of Huntington Disease
Journal article   Peer reviewed

Early Detection of Huntington Disease

Jane S Paulsen
Future neurology, Vol.5(1), pp.85-104
01/2010
DOI: 10.2217/fnl.09.78
PMCID: PMC3860286
PMID: 24348095

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Abstract

Huntington disease (HD) is a devastating illness, although its autosomal dominant genetic transmission allows a unique opportunity to study apparently healthy individuals before manifest disease. Attempts to study early disease are not unique in neurology (e.g., Mild Cognitive Impairment, Vascular Cognitive Impairment), but studying otherwise-healthy appearing individuals who will go on with nearly 99% certainty to manifest the symptoms of brain disease does provide distinct but valuable information about the true natural history of the disease. The field has witnessed an explosion of research examining possible early indicators of HD during what is now referred to as the “prodrome” of HD. A NIH study in its ninth year (PREDICT-HD) has offered a glimpse into the transition from an apparently healthy state to an obviously diseased state, and can serve as a model for many other genetic diseases, both neurological and non-neurological.
Biomarkers Clinical Trials detection Huntington disease diagnosis clinical endpoints prevention

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