Dey Saikat, Yelamanchi Ramachadra, Mullapudi Thrinath, Holla Vikram V, Kamble Nitish, Mahale Rohan R, Sathyaprabha Talakad N, Pal Pramod K, Debnath Monojit, Yadav Ravi
Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
Ann Indian Acad Neurol. 2024 Jan-Feb;27(1):40-45. doi: 10.4103/aian.aian_507_23. Epub 2024 Jan 18.
Progressive supranuclear palsy (PSP) is the most common primary tauopathy. The definite diagnosis of PSP is established by histopathologic changes in the brain. There are no reliable blood-based biomarkers to aid the diagnosis of this fatal disease at an early stage. Also, the precise etiopathology of PSP and its variants is inadequately understood.
Blood-based molecules such as neurofilament light chain (NfL) and insulin-like growth factor-1 (IGF-1) are shown as important markers of neurodegenerative and aging processes, respectively. These two biomarkers have not been analyzed simultaneously in PSP patients.
To address this knowledge gap, 40 PSP patients and equal number of healthy individuals were recruited and serum levels of NfL and IGF-1 were assayed in all the study participants by enzyme-linked immunosorbent assay (ELISA). Motor and nonmotor symptoms were evaluated in PSP patients using various scales/questionnaires. Cardiac autonomic function tests were performed in a subset of patients ( = 27).
A significantly high serum level of NfL ( < 0.01) and a reduced level of IGF-1 ( = 0.02) were observed in PSP patients compared to healthy controls. Besides, a negative correlation ( = -0.54, < 0.01) between NfL and IGF-1 levels was observed in PSP patients.
The finding of this study reinforces the important role of blood NfL level as a potential biomarker of PSP. Further, the current study provides novel insights into the reciprocal correlation between NfL and IGF-1 in PSP patients. Combined analysis of blood levels of these two functionally relevant markers might be useful in the prediction and diagnosis of PSP.
进行性核上性麻痹(PSP)是最常见的原发性tau蛋白病。PSP的明确诊断通过脑部组织病理学改变来确立。目前尚无可靠的基于血液的生物标志物来辅助早期诊断这种致命疾病。此外,PSP及其变体的确切病因病理尚未得到充分了解。
神经丝轻链(NfL)和胰岛素样生长因子-1(IGF-1)等基于血液的分子分别被证明是神经退行性变和衰老过程的重要标志物。这两种生物标志物尚未在PSP患者中同时进行分析。
为填补这一知识空白,招募了40名PSP患者和数量相等的健康个体,通过酶联免疫吸附测定(ELISA)检测了所有研究参与者血清中NfL和IGF-1的水平。使用各种量表/问卷对PSP患者的运动和非运动症状进行了评估。对部分患者(n = 27)进行了心脏自主神经功能测试。
与健康对照组相比,PSP患者血清中NfL水平显著升高(P < 0.01),IGF-1水平降低(P = 0.02)。此外,在PSP患者中观察到NfL和IGF-1水平之间呈负相关(r = -0.54,P < 0.01)。
本研究结果强化了血液NfL水平作为PSP潜在生物标志物的重要作用。此外,本研究为PSP患者中NfL和IGF-1之间的相互关系提供了新的见解。联合分析这两种功能相关标志物的血液水平可能有助于PSP的预测和诊断。