Associations between pathogenic variant and brain atrophy rates in familial frontotemporal dementia


  • Rates of atrophy increased with disease progression in people with MAPT and GRN variants, whereas C9orf72 carriers demonstrated minimal increase in rate of volume loss with disease stage.

Why this matters ?

  • Mechanisms of symptomatic disease may vary between pathogenic variants.

  • Better understanding of brain atrophy dynamics in frontotemporal lobar degeneration
    (f-FTLD) may improve the power to detect a treatment effect in future clinical trials.