05Nov 2024
MRI Reveals Early Atrophy in C9orf72 Mutation Carriers

MRI Reveals Early Atrophy in C9orf72 Mutation Carriers

The study prospectively evaluated asymptomatic C9orf72 mutation carriers to identify individuals at risk for amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). A total of 56 asymptomatic family members with the mutation (AFM C9+), 132 non-carriers (AFM C9−), and 359 population-based controls underwent longitudinal 3T magnetic resonance imaging (MRI). The results revealed that five AFM C9+ individuals converted to ALS or ALS-FTD, showing significant cortical and subcortical atrophy up to six years prior to symptom onset. Notably, some non-converting AFM C9+ subjects exhibited atrophy patterns similar to those of phenoconverters. The findings suggest that combining baseline and longitudinal MRI similarity measures may serve as effective imaging biomarkers for identifying individuals at risk for ALS or ALS-FTD.

  • #neurology

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