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Circulating Tau Profiles in Pediatric and Adult Patients with Spinal Muscular Atrophy
Leillani L Ha1,2, Sunayana Mitra1, Doreen T Ho3
1Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Medrxiv : the Preprint Server for Health Sciences
|January 29, 2026
Summary
Circulating pTau-262 may indicate spinal muscular atrophy (SMA) in adults. Pediatric SMA shows varied Tau profiles, and gene therapy may cause temporary Tau increases, suggesting neuronal stress.
Area of Science:
- Neurology
- Biomarker Discovery
- Neurodegenerative Diseases
Background:
- Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder.
- Understanding circulating Tau protein alterations is crucial for diagnosing and monitoring SMA.
- Current biomarkers for pediatric SMA are limited, necessitating further research.
Purpose of the Study:
- To investigate circulating Tau and phosphorylated Tau (pTau) profiles in pediatric and adult SMA patients.
- To identify potential biomarkers for SMA diagnosis and management.
- To assess Tau changes in pediatric SMA patients undergoing gene therapy.
Main Methods:
- Measured concentrations of total Tau, pTau-181, pTau-217, pTau-262, and pTau-396.
- Analyzed three cohorts: adult controls, adult SMA, adult ALS patients; pediatric SMA patients and controls; and gene-therapy-treated pediatric SMA patients.
- Utilized immunoassay techniques for biomarker quantification.
Main Results:
- Adult SMA patients showed elevated pTau-262 levels, distinguishing them from controls.
- Total Tau levels were similar in adult SMA and controls but elevated in ALS.
- Pediatric SMA Tau profiles were heterogeneous; transient elevations were observed post-gene therapy (onasemnogene abeparvovec).
Conclusions:
- Circulating pTau-262 may serve as a specific biomarker for adult SMA.
- Pediatric SMA biomarker profiles are more variable, highlighting the need for individualized monitoring.
- Transient Tau elevations post-gene therapy suggest acute neuronal stress and warrant further investigation.
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