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Motor unit magnetic resonance imaging (MUMRI) as a novel biomarker of muscle activity in spinal muscular atrophy

Lookup NU author(s): Matt Birkbeck, Dr Ian Schofield, Dr Ian Wilson, Dr Julie Hall, Professor Chiara Marini Bettolo, Professor Volker StraubORCiD, Professor Roger Whittaker, Professor Andrew BlamireORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Abstract

© 2026 The Author(s)Motor unit MRI (MUMRI) non-invasively detects fasciculation, a common symptom of SMA and potential biomarker for clinical trials. We applied MUMRI in ten SMA III patients and ten controls comparing fasciculation rates. Images of the tongue, upper arm, paraspinal and thighs & lower legs were acquired using MUMRI and 3-point Dixon (fat fraction) sequences. Fasciculation rate (cm−3min−1) was significantly higher in SMA than controls for: paraspinal 0.15 ± 0.20 vs. 0.003 ± 0.006, p = 0.001, thighs 1.28 ± 1.76 vs. 0.008 ± 0.005, p = 0.002 and lower legs 0.53 ± 0.85 vs. 0.02 ± 0.02, p = 0.001, but not for the tongue 0.20 ± 0.20 vs. 0.06 ± 0.09, p = 0.082 or upper arm 0.45 ± 0.95 vs. 0.002 ± 0.004, p = 0.014. Fat fraction %, was significantly higher in SMA than controls for: upper arm 35.0 ± 25.4 vs. 4.2 ± 1.1, p<<0.001, paraspinal 41.4 ± 31.0 vs. 7.4 ± 4.5, p = 0.002, thighs 54.8 ± 23.8 vs. 5.7 ± 1.0, p<<0.001 and lower legs 29.6 ± 23.5 vs. 4.4 ± 0.9, p = 0.0003, but not for the tongue 13.9 ± 3.2 vs. 13.0 ± 3.3, p = 0.393. MUMRI is an attractive non-invasive biomarker, which could be used to monitor progression & response in SMA clinical trials.


Publication metadata

Author(s): Birkbeck MG, Schofield IS, Wilson I, Bashford J, Hall J, Marini-Bettolo C, Straub V, Whittaker RG, Blamire AM

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2026

Volume: 60

Print publication date: 01/03/2026

Online publication date: 15/01/2025

Acceptance date: 14/01/2026

Date deposited: 02/02/2026

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd

URL: https://doi.org/10.1016/j.nmd.2026.106337

DOI: 10.1016/j.nmd.2026.106337


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Funding

Funder referenceFunder name
Newcastle Universities Rare Disease Centre (grant number NU-013715).

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