Distinct tau protein gene mutations show both common and distinct features between two frontotemporal dementia subtypes


  • Two distinct patterns of regional neurodegeneration, temporal and frontotemporal, are identified in MAPT-related frontotemporal dementia.

Why this matters

    Although the link between mutations in the MAPT gene and frontotemporal dementia is well recognized, the variability in atrophy patterns between specific MAPT mutations is less clear. This international study used the largest cohort of MAPT mutation carriers to date and found that different MAPT mutations are linked to specific atrophy patterns and distinct clinical symptoms. The algorithm used here could have clinical utility for identifying individuals at risk of conversion and improving therapeutic interventions.