Mid-term Progress of "Clinical characteristics, imaging features and pathogenesis of patients with amyotrophic lateral sclerosis frontotemporal dementia"

The research aimed to established a large-sample cohort of patients with ALS and ALS-FTD, and by collecting clinical and electrophysiological data, collecting serum and cerebrospinal fluid samples, multimodal MRI and longitudinal follow-ups to explore the clinical characteristics, imaging features and pathogenesis of the disease, to discover biomarkers that correlated with clinical diagnosis, progress prediction and prognosis. Through screening the susceptibility genes of ALS, we expected to find specific susceptibility genes in Chinese ALS patients, providing possible targets for pathogenesis research in ALS. We will also explore the correlation between toxic stimulation and the pathogenesis of degenerative diseases, and study the pathophysiological and molecular biochemical mechanisms that behind the rapid progression of ALS and selective cell damage. The research results may play a guiding role in the clinical diagnosis, treatment and clinical transformation of neurodegenerative diseases and brain aging.

本研究旨在构建肌萎缩侧索硬化症（Amyotrophic Lateral Sclerosis, ALS）及肌萎缩侧索硬化症伴额颞叶痴呆（ALS-FTD）的大样本患者队列，通过收集临床与电生理数据、血清及脑脊液样本、多模态磁共振成像（multimodal MRI）资料并开展纵向随访，探究该类疾病的临床特征、影像学特征与发病机制，发掘与临床诊断、病情进展预测及预后相关的生物标志物。通过筛选ALS易感基因，本研究期望在中国ALS患者中发现特异性易感基因，为ALS发病机制研究提供潜在靶点。此外，本研究还将探索毒性刺激与退行性疾病发病机制的关联，并剖析ALS快速进展及选择性细胞损伤背后的病理生理与分子生化机制。本研究成果有望为神经退行性疾病及脑衰老的临床诊断、治疗与临床转化提供指导依据。