ArticleAnnals of clinical and translational neurology2025
Twelve-month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years.
Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Multiparametric Quantitative MRI of Peripheral Nerves to Differentiate Demyelinating From Axonal Polyneuropathies.Journal of magnetic resonance imaging : JMRI · 2026Article
- Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.Neurology. Genetics · 2026Article
- Clinical Development of Therapies for Charcot-Marie-Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways.Journal of the peripheral nervous system : JPNS · 2026Review
- A Phase 1 clinical trial to evaluate the safety and tolerability of CLZ-2002 for the treatment of patients with Charcot-Marie-Tooth disease type 1.Stem cells translational medicine · 2026Article
- Longitudinal five-year follow-up by muscle MRI and high-resolution nerve ultrasound in hereditary neuropathies.Neurological research and practice · 2026Article
- Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.Journal of neurology · 2026Article
- Abnormal fat distribution in two patients with RAB7A-associated Charcot-Marie-Tooth type 2B: a case report.BMC neurology · 2025Article
- Evaluation of normalized T1 signal intensity obtained using an automated segmentation model in lower leg MRI as a potential imaging biomarker in Charcot-Marie-Tooth disease type 1 A.Scientific reports · 2025Article
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9 authors.
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Abstract
objectiveWe measured clinical and quantitative MRI outcome measures in CMT1A to assess long-term responsiveness, establish longitudinal validity and assess MRI as a bridging biomarker.
methodsTwenty patients with CMT1A and 20 matched controls underwent MRI, myometry and clinical assessments up to four times over mean 4-year follow-up. Bilateral calf muscle MRI included T1-weighted sequences with Mercuri grading and three-point Dixon quantitative fat fraction assessment. Patients were grouped on baseline calf muscle fat fraction: normal <5%, intermediate 5%-70% and end stage >70%.
resultsControls showed no significant change on MRI. CMT1A patients' calf muscle fat percentage progressed across all follow-up visits: mean absolute change was +1.3 ± 1.2% (mean ± SD) at 12 months, +2.3 ± 2.2% at 27 months and 2.8 ± 2.9% at 49 months. Mercuri grades increased by 0.07 ± 0.11 per year. Responsiveness of individual muscle fat was less than for both calves combined. Patients with intermediate baseline calf muscle fat showed greater progression of 3.7 ± 2.3% at 27 months. There was strong correlation between rate of progression of calf muscle fat and CMT Examination Score (ρ = 0.71, P = 0.005). Calf muscle fat progression at 12 months correlated significantly with annualised CMT Examination Score progression at final visit (ρ = 0.65, P = 0.01).
interpretationWe demonstrated a consistent progression of calf muscle MRI fat over 4 years, significant longitudinal correlation between CMT Examination Score and calf muscle fat, and potential as a bridging biomarker by 1 year change in fat correlating with long-term clinical progression. Increasing study duration minimally increased responsiveness; however, selecting patients with intermediate fat fraction significantly increased responsiveness.
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