Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.

ABSTRACT:

Background

To elucidate the clinical and ancillary features of genetic prion diseases (gPrDs) presenting with frontotemporal dementia (FTD) to aid early identification.

Methods

Global data of gPrDs presenting with FTD caused by prion protein gene mutations were collected from literature review and our records. Fifty-one cases of typical FTD and 136 cases of prion diseases admitted to our institution were included as controls. Clinical and ancillary data of the different groups were compared.

Results

Forty-nine cases of gPrDs presenting with FTD were identified. Compared to FTD or prion diseases, gPrDs presenting with FTD were characterized by earlier onset age (median 45 vs. 61/60 years, P < 0.001, P < 0.001) and higher incidence of positive family history (81.6% vs.

SUBMITTER: Chen Z 

PROVIDER: S-EPMC9245249 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature