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盼盼 (2024-09-30 22:36):
#paper doi: 10.1002/mds.29430 Application value of serum neurofilament light protein for disease staging in Huntington's disease. 该研究收集了大规模HTT突变携带者生物样本,纳入了症前个体和疾病早中晚期的HD患者以及大片段CAG重复片段携带者,详细阐述了血清神经丝轻链(sNfL)在HD疾病发展过程中的变化轨迹,并利用7.0T磁共振和统一亨廷顿评定量表探究了sNfL与疾病严重程度的关系。结果表明,虽然sNfL浓度在HD发病阶段趋于稳定,但sNfL可精准预测HD发病年龄。此外,sNfL的浓度与认知下降及大脑萎缩呈负相关,且受到年龄和三联核苷酸CAG复制频次的影响。
Abstract:
AbstractBackgroundNeurofilament light protein (NfL) has been proven to be a sensitive biomarker for Huntington's disease (HD). However, these studies did not include HD patients at advanced stages or with larger … >>>
AbstractBackgroundNeurofilament light protein (NfL) has been proven to be a sensitive biomarker for Huntington's disease (HD). However, these studies did not include HD patients at advanced stages or with larger CAG repeats (>50), leading to a knowledge gap of the characteristics of NfL.MethodsSerum NfL (sNfL) levels were quantified using an ultrasensitive immunoassay. Participants were assessed by clinical scales and 7.0 T magnetic resonance imaging. Longitudinal samples and clinical data were obtained.ResultsBaseline samples were available from 110 controls, 90 premanifest HD (pre‐HD) and 137 HD individuals. We found levels of sNfL significantly increased in HD compared to pre‐HD and controls (both P < 0.0001). The increase rates of sNfL were differed by CAG repeat lengths. However, there was no difference in sNfL levels in manifest HD from early to late stages. In addition, sNfL levels were associated with cognitive measures in pre‐HD and manifest HD group, respectively. The increased levels of sNfL were also closely related to microstructural changes in white matter. In the longitudinal analysis, baseline sNfL did not correlate with subsequent clinical function decline. Random forest analysis revealed that sNfL had good power for predicting disease onset.ConclusionsAlthough sNfL levels are independent of disease stages in manifest HD, it is still an optimal indicator for predicting disease onset and has potential use as a surrogate biomarker of treatment effect in clinical trials. © 2023 International Parkinson and Movement Disorder Society. <<<
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