Genetic prion diseases presenting as frontotemporal lobar degeneration: clinical features and diagnostic challenge

Background Elucidate the clinical and ancillary feature of genetic prion diseases (gPrDs) presenting with frontotemporal lobar degeneration (FTLD) in order to aid early identification, diagnosis, referral for genotype testing. Method Global data gPrDs FTLD caused by protein gene (PRNP) mutations were collected from literature review our records. Fifty-one cases typical 136 admitted institution included as controls. Clinical different groups compared. Result Forty-nine identified, 23 which female. Twenty-three PRNP have been reported be associated FTLD, P39L being most commonly reported, seen 4 families 5 cases. Compared or diseases, is characterized earlier onset age (median: 45 vs. 61/60 years) stronger family history (81.6% 27.5/13.2%). In addition, exhibited shorter duration 8 years), a higher rate features compared FTLD. had longer symptoms 1.1 rates atrophy (89.7% 3.3%), lower periodic short-wave complexes on EEG (0% 29.4%), hyperintensity MRI (25.0% 83.0%). The frequency Val allele codon 129 carriers was significantly than that (33.3% 19.2%). Conclusion GPrDs early-onset, strong history, high PRNP. intermediate two distinct conditions, while auxiliary closer Patients these characteristics need considered