Mutations in the C9orf72 gene have been established as a major genetic contribution of FTLD, although defects in the granulin (GRN) and microtubule-associated proteins (MAPs) are also associated with it.

For diagnostic purposes, magnetic resonance imaging (MRI) and ([18F]fluorodeoxyglucose) positron emission tomography (FDG-PET) are applied.

Semantic dementia is mainly related to the inferior temporal poles and amygdalae; brain regions enabling conceptual knowledge, semantic information processing, and social cognition, whereas progressive nonfluent aphasia affects the entire left frontotemporal network for phonological and syntactical processing.

United States Senator Pete Domenici (R-NM) suffered from FTLD, and the illness was the main reason for his October 4, 2007 announcement of retirement at the end of his term in office.

[18] American film director, producer, and screenwriter Curtis Hanson died as a result of FTLD on September 20, 2016.