Science translational medicine · 2020
Mutant huntingtin and neurofilament light have distinct longitudinal dynamics in Huntington's disease.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Rodrigues Filipe B, Byrne Lauren M, Tortelli Rosanna, Johnson Eileanoir B, Wijeratne Peter A, Arridge Marzena, De Vita Enrico, Ghazaleh Naghmeh, Houghton Richard, Furby Hannah, Alexander Daniel C, Tabrizi Sarah J, Schobel Scott, Scahill Rachael I, Heslegrave Amanda, Zetterberg Henrik, Wild Edward J
Аннотация
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.