Presymptomatic Amyotrophic Lateral Sclerosis: From Early Biomarker Detection to Phenoconversion Prediction. (PubMed, Diagnostics (Basel)) - Sep 16, 2026 - "The ATLAS study, a trial of tofersen initiated in clinically presymptomatic carriers of superoxide dismutase 1 (SOD1) variants, incorporated specific SOD1 variants and within-person NfL increases into risk monitoring and used these criteria to select participants for the randomized treatment phase. Evidence remains concentrated in a few genetic subtypes, and no single marker accurately predicts individual phenoconversion. Identification requires genotype-specific natural history, serial clinical examinations and biomarker testing, with clinical utility validated in independent longitudinal cohorts and prevention trials."
Biomarker • Journal • Review • Amyotrophic Lateral Sclerosis • CNS Disorders • NEFL • SOD1 • TARDBP
|
|
Hexian Li; Min Chen; Qingwen Jin
|