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Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome

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Please use this identifier to cite or link to this item:http://hdl.handle.net/2115/68138

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)

Submitter: 矢部 一郎

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