An autopsied FTDP-17 case with MAPT IVS 10 + 14C > T mutation presenting with frontotemporal dementia

Ryohei Watanabe; Ito Kawakami; Takeshi Ikeuchi; Shigeo Murayama; Tetsuaki Arai; Haruhiko Akiyama; Mitsumoto Onaya; Masato Hasegawa

doi:10.1016/j.ensci.2021.100363

An autopsied FTDP-17 case with MAPT IVS 10 + 14C > T mutation presenting with frontotemporal dementia

eNeurologicalSci. 2021 Jul 28:24:100363. doi: 10.1016/j.ensci.2021.100363. eCollection 2021 Sep.

Authors

Ryohei Watanabe^{1

2}, Ito Kawakami¹, Takeshi Ikeuchi³, Shigeo Murayama⁴, Tetsuaki Arai², Haruhiko Akiyama^{1

5}, Mitsumoto Onaya⁶, Masato Hasegawa¹

Affiliations

¹ Dementia Research Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya, Tokyo, Japan.
² Department of Psychiatry, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, Japan.
³ Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi, Niigata, Niigata, Japan.
⁴ Brain Bank for Aging Research, Department of Neurology, Tokyo Metropolitan Institute of Gerontology, 35-2 Sakaecho, Itabashi, Tokyo, Japan.
⁵ Department of Clinical Research, Yokohama Brain and Spine Center, 1-2-1 Takigashira, Isogo, Yokohama, Kanagawa, Japan.
⁶ Department of Psychiatry, National Hospital Organization Shimofusa Psychiatric Medical Center, 578 Hetacho, Midori, Chiba, Chiba, Japan.

Abstract

•We report the immunohistochemical and biochemical features of an FTDP-17 case with MAPT IVS 10 + 14C > T mutation.•Postmortem examination of the patient with bvFTD revealed diffuse neuronal and glial 4-repeat tau pathology similar to CBD.•The structure of tau filaments associated with MAPT IVS 10 + 14C > T mutation was characterized by electron microscopy.

Keywords: FTD; FTDP-17; FTLD; MAPT; Mutation; Neuropathology.