Major Genetic Subtypes of Frontotemporal Dementia

Analysis of a large cohort reveals presence of two known mutations in 17% and autosomal dominant inheritance without known mutations in another 10%.

To explore the genetics of frontotemporal dementia (FTD), researchers evaluated a large cohort of patients diagnosed with FTD-spectrum disorders at an academic dementia center in Rotterdam, the Netherlands. Among the 364 patients, major subgroups of FTD were behavioral-variant FTD in 246 patients, semantic dementia in 56, FTD with motor neuron disease (FTD-MND) in 25, and progressive nonfluent aphasia in 7. The authors classified patients according to positive family history and presence of MND. They screened familial cases for mutations in tau, progranulin, and CHMP2B.

Family history was positive in 47% of the cohort. Autosomal dominant modes of inheritance were found in 27% of all patients, including 11% with tau mutations and 6% with prog…

Reviewing Author

Bruce L. Miller, MD

Major Genetic Subtypes of Frontotemporal Dementia

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Reviewing Author