| Title: | Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome |
| Authors: | Yabe, Ichiro Browse this author →KAKEN DB |
| Yaguchi, Hiroaki Browse this author |
| Kato, Yasutaka Browse this author |
| Miki, Yasuo Browse this author |
| Takahashi, Hidehisa Browse this author →KAKEN DB |
| Tanikawa, Satoshi Browse this author |
| Shirai, Shinichi Browse this author |
| Takahashi, Ikuko Browse this author |
| Kimura, Mari Browse this author |
| Hama, Yuka Browse this author |
| Matsushima, Masaaki Browse this author →ORCID |
| Fujioka, Shinsuke Browse this author |
| Kano, Takahiro Browse this author |
| Watanabe, Masashi Browse this author |
| Nakagawa, Shin Browse this author →KAKEN DB |
| Kunieda, Yasuyuki Browse this author |
| Ikeda, Yoshio Browse this author |
| Hasegawa, Masato Browse this author |
| Nishihara, Hiroshi Browse this author →KAKEN DB |
| Ohtsuka, Toshihisa Browse this author →KAKEN DB |
| Tanaka, Shinya Browse this author →KAKEN DB |
| Tsuboi, Yoshio Browse this author |
| Hatakeyama, Shigetsugu Browse this author →KAKEN DB |
| Wakabayashi, Koichi Browse this author |
| Sasaki, Hidenao Browse this author →KAKEN DB |
| Issue Date: | 16-Jan-2018 |
| Publisher: | Nature Publishing Group |
| Journal Title: | Scientific Reports |
| Volume: | 8 |
| Start Page: | 819 |
| Publisher DOI: | 10.1038/s41598-018-19198-0 |
| Abstract: | Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. Their clinical features resembled not only those of PSP patients but also those of individuals with multiple system atrophy and Alzheimer’s disease. The neuropathological findings showed a novel three + four repeat tauopathy with pallido-luysio-nigral degeneration and hippocampal sclerosis. Whole-exome analysis of this family identified a novel missense mutation in BSN. Within the pedigree, the detected BSN mutation was found only in affected individuals. Further genetic analyses were conducted in probands from four other pedigrees with PSP-like syndrome and in 41 sporadic cases. Three missense mutations in BSN that are very rarely listed in databases of healthy subjects were found in four sporadic cases. Western blot analysis of tau following the overexpression of wild-type or mutated BSN revealed the possibility that wild-type BSN reduced tau accumulation, while mutated BSN lost this function. An association between BSN and neurological diseases has not been previously reported. Our results revealed that the neurodegenerative disorder associated with the original proband’s pedigree is a novel tauopathy, differing from known dementia and parkinsonism syndromes, including PSP. |
| Rights: | http://creativecommons.org/licenses/by/4.0/ |
| Type: | article |
| URI: | http://hdl.handle.net/2115/68138 |
| Appears in Collections: | 医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
|
