Article
An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP-43 proteinopathy.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Apr 2021
Matsubara Tomoyasu, Izumi Yuishin, Oda Masaya, Takahashi Masatoshi, Maruyama Hirofumi, Miyamoto Ryosuke, Watanabe Chigusa, Tachiyama Yoshiro, Morino Hiroyuki, Kawakami Hideshi, Saito Yuko, Murayama Shigeo
Abstract excerpt
We here report an autopsy case of familial amyotrophic lateral sclerosis (ALS) with p.Arg487His mutation in the valosin-containing protein (VCP) gene (VCP), in which upper motor neurons (UMNs) were predominantly involved. Moreover, our patient developed symptoms of frontotemporal dementia later in life and pathologically exhibited numerous phosphorylated transactivation response DNA-binding protein of 43 kDa...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.