Longitudinal motor function and biomarker correlates in treated adult spinal muscular atrophy: a single-center cohort study - Summary - MDSpire

Longitudinal motor function and biomarker correlates in treated adult spinal muscular atrophy: a single-center cohort study

  • By

  • Chikashi Yano

  • Masahiro Ando

  • Akiko Yoshimura

  • Yujiro Higuchi

  • Yoshikatsu Noda

  • Jun-Hui Yuan

  • Tomonori Nakamura

  • Takahiro Hobara

  • Risa Nagatomo

  • Fumikazu Kojima

  • Mika Yuji

  • Yu Hiramatsu

  • Satoshi Nozuma

  • Akihiro Hashiguchi

  • Yusuke Sakiyama

  • Hiroshi Takashima

  • June 11, 2026

  • 0 min

Share

Objective:

To evaluate long-term clinical trajectories, genotype–phenotype relationships, and clinically accessible biomarkers in treated adults with spinal muscular atrophy (SMA) under real-world treatment conditions.

Approach:
    Key Findings:
    • Higher SMN2 copy number correlated with later onset and milder severity of SMA, with hybrid SMN alleles showing heterogeneous patterns.
    • Motor scores improved or stabilized in the first year post-treatment, followed by a plateau or gradual decline in some patients.
    • Vital capacity (%VC) was independently associated with RULM scores, indicating its potential as a monitoring tool.
    • Ulnar CMAP amplitude and creatine kinase (CK) were significant predictors in exploratory machine-learning models.
    Interpretation:

    Simple clinical measures such as %VC, CK, and ulnar CMAP amplitude are associated with motor status in treated adults with SMA, aiding in routine monitoring and potentially improving patient management.

    Limitations:
    • The study's exploratory nature limits the generalizability of findings.
    • Small sample size may affect the robustness of the results.
    • Single-center design may introduce biases that affect the findings.
    Conclusion:

    Prediction of treatment responsiveness remains challenging despite associations found between clinical measures and motor function, highlighting the need for further research in this area.

Original Source(s)

Longitudinal motor function and biomarker correlates in treated adult spinal muscular atrophy: a single-center cohort study

  • by Chikashi Yano, Masahiro Ando, Akiko Yoshimura, Yujiro Higuchi, Yoshikatsu Noda, Jun-Hui Yuan, Tomonori Nakamura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Mika Yuji, Yu Hiramatsu, Satoshi Nozuma, Akihiro Hashiguchi, Yusuke Sakiyama, Hiroshi Takashima

  • June 11, 2026

Related Content

When Bad Data Enters the Drug Pipeline

Federal prosecutors allege that a Florida physician and research staff fabricated clinical trial records that were submitted into database systems used to evaluate investigational drugs.

Impact of rehabilitation trajectory on affective and cognitive impairment after intracerebral hemorrhage: a cohort study

Human–AI collaboration for dysphagia rehabilitation from effectiveness to implementation complexity: a systematic review