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Related Experiment Video

Updated: May 5, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Elevated Urinary Titin in Adult Spinal Muscular Atrophy: A Multicenter, Cross-Sectional Observational Study.

Andrea Sipos1, Emese Rebeka Ripszám2, Judit Mária Molnár2

  • 1Department of Neurology, Medical School, University of Pécs, 7623 Pécs, Hungary.

Neurology International
|August 27, 2025
PubMed
Summary

Urinary titin N fragment (UNT) is a potential noninvasive biomarker for spinal muscular atrophy (SMA). Higher UNT levels were found in SMA patients, indicating its importance in monitoring this motor neuron disease.

Keywords:
biomarkersspinal muscular atrophyurinary titin

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Area of Science:

  • Neurology
  • Biochemistry
  • Biomarker Discovery

Background:

  • Spinal muscular atrophy (SMA) is a treatable motor neuron disease.
  • Reliable biomarkers are crucial for treatment efficacy and disease progression monitoring.
  • Urinary titin N fragment (UNT) shows promise as an indicator of muscle damage.

Purpose of the Study:

  • To investigate the potential of urinary titin N fragment (UNT) as a noninvasive biomarker for spinal muscular atrophy (SMA).

Main Methods:

  • Measured UNT levels in 41 SMA patients and 41 healthy controls.
  • Collected clinical data, functional test results, and serum creatine kinase levels.
  • Compared UNT levels between SMA patients and controls.

Main Results:

  • Significantly elevated UNT levels were observed in SMA patients compared to healthy controls.
  • No significant correlation was found between UNT levels and SMA disease type, functional test outcomes, or serum creatine kinase.
  • This suggests UNT's specificity to muscle atrophy in SMA.

Conclusions:

  • Urinary titin N fragment (UNT) shows potential as a noninvasive biomarker for spinal muscular atrophy (SMA).
  • Further longitudinal studies are recommended to validate the role of UNT in SMA.
  • UNT may aid in disease monitoring and treatment assessment.