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

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

Abstract 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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2023-08-01
Series:Acta Neuropathologica Communications
Subjects:
Right-temporal variant frontotemporal dementia
MAPT
Behavioral variant frontotemporal dementia
Frontotemporal lobar degeneration
Intron
Splicing
Online Access:https://doi.org/10.1186/s40478-023-01629-3

Internet

https://doi.org/10.1186/s40478-023-01629-3

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