Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.

Hiroyuki Morino Takashi Kurashige Yukiko MatsudaMaiko OnoNaruhiko Sahara Tomohiro Miyasaka Yoshiyuki Soeda Hitoshi Shimada Yu Yamazaki Tetsuya Takahashi Yuishin IzumiHidefumi ItoHirofumi MaruyamaMakoto HiguchiKoji ArihiroTetsuya SuharaAkihiko TakashimaHideshi Kawakami

Published in: Movement disorders clinical practice (2024)

This study confirmed that the insACA mutation caused FTDP-17. The affected patients showed symptoms resembling Parkinson's disease initially and symptoms of progressive supranuclear palsy later. Despite the initial clinical diagnosis of frontotemporal dementia in the autopsy case, the spread of lesions could explain the process of progressive supranuclear palsy. The study of more cases in the future will help clarify the common pathogenesis of MAPT mutations or specific pathogeneses of each mutation.

Keyphrases

multiple sclerosis
ejection fraction
newly diagnosed
physical activity
depressive symptoms
patient reported