A member of a family with an autosomal dominant pattern of frontotemporal dementia (FTD) with a TDP-43 pathological substrate in other members and no mutations in FTD-associated genes developed behavioral variant FTD followed by Progressive Supranuclear Palsy. Autopsy revealed a pure tauopathy of PSP pattern.
Conclusions:
The findings raise the possibility of shared pathogenic pathways and a proximal genetic abnormality between PSP and FTLD-43.