| Literature DB >> 33328328 |
Filipe B Rodrigues1, Lauren M Byrne1, Rosanna Tortelli1, Eileanoir B Johnson1, Peter A Wijeratne2, Marzena Arridge3,4, Enrico De Vita3,4,5, Naghmeh Ghazaleh6, Richard Houghton6, Hannah Furby6, Daniel C Alexander2, Sarah J Tabrizi1,7, Scott Schobel8, Rachael I Scahill1, Amanda Heslegrave7,9, Henrik Zetterberg7,9,10,11, Edward J Wild12.
Abstract
The longitudinal dynamics of the most promising biofluid biomarker candidates for Huntington's disease (HD)-mutant huntingtin (mHTT) and neurofilament light (NfL)-are incompletely defined. Characterizing changes in these candidates during disease progression could increase our understanding of disease pathophysiology and help the identification of effective therapies. In an 80-participant cohort over 24 months, mHTT in cerebrospinal fluid (CSF), as well as NfL in CSF and blood, had distinct longitudinal trajectories in HD mutation carriers compared with controls. Baseline analyte values predicted clinical disease status, subsequent clinical progression, and brain atrophy, better than did the rate of change in analytes. Overall, NfL was a stronger monitoring and prognostic biomarker for HD than mHTT. Nonetheless, mHTT has prognostic value and might be a valuable pharmacodynamic marker for huntingtin-lowering trials.Entities:
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Year: 2020 PMID： 33328328 PMCID： PMC7611886 DOI： 10.1126/scitranslmed.abc2888
Source DB: PubMed Journal: Sci Transl Med ISSN： 1946-6234 Impact factor: 17.956