Genetic spectrum features and diagnostic accuracy of four?plasma biomarkers in 248 Chinese patients with?frontotemporal dementia
【Introduction】：
Frontotemporal dementia (FTD) is characterized by phenotypic and genetic heterogeneities. However, reports on the large Chinese FTD cohort are lacking.
【Methods】：
Venous blood samples were collected in ethylenediaminetetraacetic acid tubes and centrifuged at 1006.2 (g) for 15 minutes at 4°C within 2 hours post collection. Plasma samples were preserved at ?80°C without undergoing freeze–thaw cycles. Quantification of phosphorylated p-tau181, NfL, α-syn, and GFAP was conducted using a fully automated single-molecule detection machine (AST-Sc-Lite, AstraBio) following the manufacturer's guidelines (detailed parameters and steps are shown in the supporting information and Table S2). Assay kits R64030, R64040, R64070, and R64060 (Suzhou AstraBio Technology) were used for detecting plasma biomarkers of p-tau181, NfL, α-syn, and GFAP, respectively. The individuals who conducted the tests were unaware of the participants' group status.
【Results】：
Gene sequencing identified 48 pathogenic or likely pathogenic mutations in a total of 19.4% of patients with FTD (48/248). The most common mutation was the C9orf72 dynamic mutation (5.2%, 13/248). Significantly increased levels of GFAP, α-syn, NfL, and p-tau181 were detected in patients compared to controls (all p < 0.05). GFAP and α-syn presented better performance for diagnosing FTD.