Early detection of Huntington's disease

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Abstract

Huntington's disease 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 and vascular cognitive impairment), but studying otherwise healthy-appearing individuals who have nearly 99% certainty of manifesting 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 Huntington's disease during what is now referred to as the 'prodrome' of Huntington's disease. A NIH study in its 9th 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. © 2010 Future Medicine Ltd.

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Paulsen, J. S. (2010). Early detection of Huntington’s disease. Future Neurology. https://doi.org/10.2217/fnl.09.78

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