AI Article Synopsis
- The study aimed to explore the efficacy of plasma markers such as neurofilament light chain (NfL), phosphorylated tau (p-Tau), and total tau (t-Tau) in determining the clinical severity of Huntington's disease (HD) among Korean patients.
- Involving 67 genetically-confirmed HD patients, researchers utilized various assessment tools to evaluate motor and cognitive function and measured plasma concentrations of the biomarkers using advanced assays.
- Results indicated that NfL was significantly elevated in HD patients, particularly increasing from premanifest to manifest stages, while p-Tau levels correlated with clinical severity but t-Tau did not show notable differences among groups, suggesting NfL and p-Tau as potential biomarkers for HD severity.
Article Abstract
Objective: To investigate neurofilament light chain (NfL), phosphorylated tau (p-Tau) and total tau (t-Tau) as plasma markers for clinical severity in Korean Huntington's disease (HD) cohort.
Methods: Genetically-confirmed 67 HD patients participated from 13 referral hospitals in South Korea. The subjects were evaluated with the Unified Huntington's Disease Rating Scale (UHDRS), total motor score (TMS) and total functional capacity (TFC), Mini-Mental Status Examination (K-MMSE), Montreal Cognitive Assessment (MoCA-K), and Beck's depression inventory (K-BDI). We measured plasma NfL, p-Tau and t-Tau concentrations using single-molecule array (SIMOA) assays. Stages of HD were classified based on UHDRS-TFC score and plasma markers were analyzed for correlation with clinical severity scales.
Results: Plasma NfL was elevated in both 6 premanifest and 61 full manifest HD patients compared to the reference value, which increased further from premanifest to manifest HD groups. The NfL level was not significantly correlated with UHDRS TMS or TFC scores in manifest HD patients. Plasma p-Tau was also elevated in HD patients (p = 0.038). The level was the highest in stage III-V HD (n = 30) group (post-hoc p < 0.05). The p-Tau was correlated with UHDRS TFC scores (adjusted p = 0.002). Plasma t-Tau neither differed among the groups nor associated with any clinical variables.
Conclusions: This study supports plasma NfL being a biomarker for initial HD manifestation in Korean cohort, and a novel suggestion of plasma p-Tau as a potential biomarker reflecting the clinical severity in full-manifest HD.
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| http://dx.doi.org/10.1016/j.jns.2023.120744 | DOI Listing |
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