{"id":"doi:10.1007/s00415-026-14194-1","kind":"article","title":"Serum p-tau181 and p-tau217 levels in adolescents and adults with 5q spinal muscular atrophy","authors":["Stapf CD","Uzelac Z","Iterbeke L","Guthknecht A","Barba L","Strube D","Kölsch A","Kleeberg K","Kendzierski T","Roos A","Steinacker P","Abu-Rumeileh S","Claeys KG","Weishaupt J","Mensch A","Otto M"],"author_count":16,"year":2026,"published":"2026-10-21","venue":"Journal of neurology","cited_by":0,"doi":"10.1007/s00415-026-14194-1","arxiv_id":null,"nct_id":null,"source_url":"https://doi.org/10.1007/s00415-026-14194-1","archive_url":"https://space-kitty.com/papers/doi:10.1007/s00415-026-14194-1","updated":null,"pmid":"42905162","pmcid":"PMC13687299","openalex_id":null,"pdf_url":"https://europepmc.org/articles/PMC13687299/pdf","abstract":"Background Reliable blood biomarkers for longitudinal monitoring in adolescent and adult 5q spinal muscular atrophy (SMA) are lacking. Phosphorylated tau (p-tau) species are elevated in serum in amyotrophic lateral sclerosis (ALS), where they may reflect peripheral nerve and muscle pathology. We aimed to investigate serum p-tau181 and p-tau217 as longitudinal biomarkers in adolescent and adult SMA and assessed associations with clinical parameters. Methods In this retrospective multi-centre study, we assessed serum p-tau181 and p-tau217 levels in adults with 5q SMA under treatment with nusinersen or risdiplam, comparing levels with Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and non-neurodegenerative disease controls. Associations with motor function, respiratory capacity, creatine kinase (CK), and neurofilament light chain (NfL) were assessed using linear mixed-effects models adjusted for age and sex. Results Serum p-tau181 was higher in SMA than in disease controls (β = -0.48, 95%-CI -0.81 to -0.15), but lower than in ALS (β = 0.99, 95%-CI 0.58 to 1.39) and AD (β = 0.56, 95%-CI 0.11 to 1.00). P-tau181 declined from baseline to FUP2 (Δ median -1.80 pg/mL, IQR -5.90 to 2.10); p-tau217 showed no longitudinal change. P-tau181 and p-tau217 were positively associated with motor function, functional status, respiratory capacity, and CK, with no association with NfL. In exploratory analyses, higher baseline p-tau181 was associated with greater HFMSE decline (β = 1.79, 95%-CI 0.59 to 2.99). Conclusions Serum p-tau181 and p-tau217 appear to reflect ongoing muscle turnover in adult SMA, declining as muscle mass decreases. Higher baseline p-tau181 was associated with subsequent functional deterioration, suggesting potential utility as a biomarker of active denervation and disease monitoring.","abstract_license":"CC-BY (article license as recorded by Europe PMC; abstract reproduced unmodified apart from markup removal)","license":"CC-BY","is_open_access":true,"retracted":false,"peer_reviewed":null,"categories":[],"details":null,"provenance":"europepmc","attribution":"Abstract of \"Serum p-tau181 and p-tau217 levels in adolescents and adults with 5q spinal muscular atrophy\" by Stapf CD, Uzelac Z, Iterbeke L et al., https://doi.org/10.1007/s00415-026-14194-1, used under its Creative Commons Attribution license (CC-BY); markup removed, otherwise unmodified.","topics":[{"slug":"neurodegeneration","name":"Alzheimer's, Parkinson's & Neurodegeneration","domain_slug":"medicine"}],"cited_in_dossiers":[]}