Plasma Neurofilament Light Chain and Phosphorylated Tau Are Elevated in Myotonic Dystrophy Type 1.

ABSTRACT: Background/Objectives: Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects the central nervous system. Despite previous studies, blood-based biomarkers have not been sufficiently characterized. This study investigated plasma neurofilament light chain (NfL), phosphorylated tau (p-tau181), amyloid-β (Aβ42/40), and glial fibrillary acidic protein (GFAP) in a Japanese cohort with DM1 to assess their potential as biomarkers. Methods: Forty patients with genetically confirmed DM1 were enrolled in this study. Plasma NfL, p-tau181, Aβ42/40, and GFAP were quantified using single-molecule array technology. Clinical and genetic variables, including age, CTG repeat size, Mini-Mental State Examination (MMSE) score, modified Rankin Scale (mRS) score, and creatine kinase

SUBMITTER: Takahashi MP 

PROVIDER: S-EPMC12653599 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature