ArticleNeurology2026
Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI and Clinical Outcomes.
Article in Neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
BACKGROUND AND
objectivesCharcot-Marie-Tooth neuropathy type 1A (CMT1A) is a slowly progressive demyelinating neuropathy with distal muscle weakness and atrophy. Sensitive, objective outcome measures are needed for future clinical trials. We aimed to identify responsive imaging and clinical biomarkers in CMT1A over 24 months.
methodsIn this prospective, monocentric natural history study, ambulatory adults with genetically confirmed CMT1A and healthy controls were enrolled for 3 visits (baseline, 12, and 24 months). Quantitative muscle MRI quantified proton density fat fraction (PDFF, %) and disease activity with water T2 (T2
resultsThirty-three patients with CMT1A (43.8 years, 64% female) and 33 controls (42.2 years, 61% female) were included. At baseline, PDFF (%) was elevated in CMT1A across all leg muscles ( DISCUSSION: Distal leg PDFF (%) from 3D whole-muscle segmentation detects CMT1A progression within 12 months. Combined with the MFM32 and INQoL, these measures enable sensitive 12-month endpoints for future clinical trials in adults with CMT1A.
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