Huntington's disease (HD) is a hereditary disorder characterized by the progressive onset of neurodegeneration. Children of HD patients have a 50% chance of inheriting the disease, but symptoms do not appear until middle age. While genetic testing reliably determines if children of HD sufferers are carriers of the disease, it cannot provide information as to when symptoms will appear. In this issue of the Journal of Clinical Investigation, David Eidelberg and colleagues at the Feinstein Institute of Medical Research, evaluated changes in the brain metabolism of a small group of preclinical HD carriers over the course of seven years and identified a metabolic network that is associated with HD progression. Measurable increases in the activity of this network were predictive of time to symptom onset. This study provides biomarkers for evaluating disease progression in HD carriers and supports incorporating this assessment into clinical trials of HD treatment.
This study was funded by the NIH (National Institute of Neurological Disorders and Stroke, National Institute of Biomedical Imaging and Bioengineering) and CHDI Foundation Inc. Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, etc.
Metabolic Network as a Progression Biomarker of Premanifest Huntington's Disease
The Feinstein Institute for Medical Research, Manhasset, NY, USA
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View this article at: http://www.jci.org/articles/view/69411?key=feceaf8c0c6cc9390586
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