Article
Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.
Movement disorders clinical practice - 1 Jun 2024
Morino Hiroyuki, Kurashige Takashi, Matsuda Yukiko, Ono Maiko, Sahara Naruhiko, Miyasaka Tomohiro, Soeda Yoshiyuki, Shimada Hitoshi, Yamazaki Yu, Takahashi Tetsuya, Izumi Yuishin, Ito Hidefumi, Maruyama Hirofumi, Higuchi Makoto, Arihiro Koji, Suhara Tetsuya, Takashima Akihiko, Kawakami Hideshi
Abstract excerpt
BACKGROUND: MAPT is a causative gene in frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), a hereditary degenerative disease with various clinical manifestations, including progressive supranuclear palsy, corticobasal syndrome, Parkinson's disease, and frontotemporal dementia. OBJECTIVES: To analyze genetically, biochemically, and pathologically multiple members of two families who...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
