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Circulating Tau Profiles in Pediatric and Adult Patients with Spinal Muscular Atrophy

2025-12-29 genetic and genomic medicine Title + abstract only
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ObjectiveTo determine alterations in circulating Tau and phosphorylated Tau (pTau) profiles in pediatric and adult patients with spinal muscular atrophy (SMA). MethodsCirculating total Tau, pTau-181, pTau-217, pTau-262, and pTau-396 concentrations were measured across three cohorts: 1) adults including healthy controls, SMA patients, and ALS patients; 2) pediatric SMA patients and age-matched controls; and 3) pediatric SMA patients treated with onasemnogene abeparvovec. ResultsDistinct alterat...

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