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論文
- タイトル
- タイトル（英）
- A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy.
- 参照URL
- https://researchmap.jp/masatohasegawa/published_papers/43072186
- 著者
- 著者（英）
- Kohji Mori,Kazue Shigenobu,Goichi Beck,Ryota Uozumi,Yuto Satake,Maki Suzuki,Shizuko Kondo,Shiho Gotoh,Yuki Yonenobu,Makiko Kawai,Yuki Suzuki,Yuko Saito,Eiichi Morii,Masato Hasegawa,Hideki Mochizuki,Shigeo Murayama,Manabu Ikeda
- 担当区分
- 概要
- 概要（英）
- Right temporal variant frontotemporal dementia, also called right-predominant semantic dementia, often has an unclear position within the framework of the updated diagnostic criteria for behavioral variant frontotemporal dementia or primary progressive aphasia. Recent studies have suggested that this population may be clinically, neuropathologically, and genetically distinct from those with behavioral variant frontotemporal dementia or left-predominant typical semantic variant primary progressive aphasia. Here we describe a Japanese case of right temporal variant frontotemporal dementia with novel heterozygous MAPT mutation Adenine to Thymidine in intervening sequence (IVS) 9 at position -7 from 3' splicing site of intron 9/exon 10 boundary (MAPT IVS9-7A > T). Postmortem neuropathological analysis revealed a predominant accumulation of 4 repeat tau, especially in the temporal lobe, amygdala, and substantia nigra, but lacked astrocytic plaques or tufted astrocytes. Immunoelectron microscopy of the tau filaments extracted from the brain revealed a ribbon-like structure. Moreover, a cellular MAPT splicing assay confirmed that this novel variant promoted the inclusion of exon 10, resulting in the predominant production of 4 repeat tau. These data strongly suggest that the MAPT IVS9-7 A > T variant found in our case is a novel mutation that stimulates the inclusion of exon 10 through alternative splicing of MAPT transcript and causes predominant 4 repeat tauopathy which clinically presents as right temporal variant frontotemporal dementia.
- 出版者・発行元
- 出版者・発行元（英）
- 誌名
- 誌名（英）
- Acta neuropathologica communications
- 巻
- 11
- 号
- 1
- 開始ページ
- 130
- 終了ページ
- 130
- 出版年月
- 2023年8月10日
- 査読の有無
- 招待の有無
- 掲載種別
- 研究論文（学術雑誌）
- ISSN
- DOI URL
- https://doi.org/10.1186/s40478-023-01629-3
- 共同研究・競争的資金等の研究課題
研究者
Hasegawa Masato
( )