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UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London WC1B 5EH, UK.
Centre for Medical Image Computing, Department of Computer Science, University College London, London WC1E 6BT, UK.
Sci Transl Med. 2020 Dec 16;12(574). doi: 10.1126/scitranslmed.abc2888.
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.
亨廷顿舞蹈症（HD）最具潜力的生物流体生物标志物候选物——突变型亨廷顿蛋白（mHTT）和神经丝轻链（NfL）的纵向动力学尚未完全明确。了解这些候选物在疾病进展过程中的变化，有助于我们深入理解疾病病理生理学，并有助于确定有效的治疗方法。在一项为期24个月、纳入80名参与者的队列研究中，与对照组相比，HD突变携带者脑脊液（CSF）中的mHTT以及CSF和血液中的NfL具有不同的纵向变化轨迹。基线分析物值比分析物的变化率更能预测临床疾病状态、后续临床进展和脑萎缩。总体而言，对于HD，NfL是比mHTT更强的监测和预后生物标志物。尽管如此，mHTT具有预后价值，可能是降低亨廷顿蛋白试验中有价值的药效学标志物。
