Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity

Uros Klickovic, Luca Zampedri, Christopher D J Sinclair, Stephen J Wastling, Karin Trimmel, Robin S Howard, Andrea Malaspina, Nikhil Sharma, Katie Sidle, Ahmed Emira, Sachit Shah, Tarek A Yousry, Michael G Hanna, Linda Greensmith, Jasper M Morrow, John S Thornton, Pietro Fratta

Research output: Journal article (peer-reviewed)Journal article

39 Citations (Scopus)

Abstract

OBJECTIVE: To investigate the use of muscle MRI for the differential diagnosis and as a disease progression biomarker for 2 major forms of motor neuron disorders: spinal bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS).

METHODS: We applied quantitative 3-point Dixon and semiquantitative T1-weighted and short tau inversion recovery (STIR) imaging to bulbar and lower limb muscles and performed clinical and functional assessments in ALS (n = 21) and SBMA (n = 21), alongside healthy controls (n = 16). Acquired images were analyzed for the presence of fat infiltration or edema as well as specific patterns of muscle involvement. Quantitative MRI measurements were correlated with clinical measures of disease severity in ALS and SBMA.

RESULTS: Quantitative imaging revealed significant fat infiltration in bulbar (p < 0.001) and limb muscles in SBMA compared to controls (thigh: p < 0.001; calf: p = 0.001), identifying a characteristic pattern of muscle involvement. In ALS, semiquantitative STIR imaging detected marked hyperintensities in lower limb muscles, distinguishing ALS from SBMA and controls. Finally, MRI measurements correlated significantly with clinical scales of disease severity in both ALS and SBMA.

CONCLUSIONS: Our findings show that muscle MRI differentiates between SBMA and ALS and correlates with disease severity, supporting its use as a diagnostic tool and biomarker for disease progression. This highlights the clinical utility of muscle MRI in motor neuron disorders and contributes to establish objective outcome measures, which is crucial for the development of new drugs.

Original languageEnglish
Pages (from-to)e895-e907
JournalNeurology
Volume93
Issue number9
DOIs
Publication statusPublished - 27 Aug 2019

Keywords

  • Amyotrophic Lateral Sclerosis/diagnostic imaging
  • Case-Control Studies
  • Cross-Sectional Studies
  • Diagnosis, Differential
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle, Skeletal/diagnostic imaging
  • Muscular Atrophy, Spinal/diagnostic imaging
  • Prospective Studies
  • Severity of Illness Index

ASJC Scopus subject areas

  • Neurology (clinical)

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