Research ArticleHuntington’s Disease

Evaluation of mutant huntingtin and neurofilament proteins as potential markers in Huntington’s disease

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Science Translational Medicine  12 Sep 2018:
Vol. 10, Issue 458, eaat7108
DOI: 10.1126/scitranslmed.aat7108

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Improving Huntington’s disease detection

Early detection of Huntington’s disease (HD) could help the development of effective therapeutic strategies to block or delay disease progression. Byrne and colleagues now show that in blood and cerebrospinal fluid, mutant huntingtin (mHTT) and neurofilament light (NfL) protein concentrations correlated with disease severity in HD patients. Computational analysis further showed that alterations in circulating NfL and mHTT concentrations may be among the earliest detectable changes in HD. Thus, the results suggest that analysis of mHTT and NfL concentrations in biofluids might be used in combination with other clinical measures for improving the accuracy and efficiency of early HD detection.