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01.06.2024 | Original Paper

Tau filaments with the chronic traumatic encephalopathy fold in a case of vacuolar tauopathy with VCP mutation D395G

verfasst von: Chao Qi, Ryota Kobayashi, Shinobu Kawakatsu, Fuyuki Kametani, Sjors H. W. Scheres, Michel Goedert, Masato Hasegawa

Erschienen in: Acta Neuropathologica | Ausgabe 1/2024

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Abstract

Dominantly inherited mutation D395G in the gene encoding valosin-containing protein causes vacuolar tauopathy, a type of behavioural-variant frontotemporal dementia, with marked vacuolation and abundant filamentous tau inclusions made of all six brain isoforms. Here we report that tau inclusions were concentrated in layers II/III of the frontotemporal cortex in a case of vacuolar tauopathy. By electron cryomicroscopy, tau filaments had the chronic traumatic encephalopathy (CTE) fold. Tau inclusions of vacuolar tauopathy share this cortical location and the tau fold with CTE, subacute sclerosing panencephalitis and amyotrophic lateral sclerosis/parkinsonism-dementia complex, which are believed to be environmentally induced. Vacuolar tauopathy is the first inherited disease with the CTE tau fold.

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Titel: Tau filaments with the chronic traumatic encephalopathy fold in a case of vacuolar tauopathy with VCP mutation D395G
verfasst von: Chao Qi
Ryota Kobayashi
Shinobu Kawakatsu
Fuyuki Kametani
Sjors H. W. Scheres
Michel Goedert
Masato Hasegawa
Publikationsdatum: 01.06.2024
Verlag: Springer Berlin Heidelberg
Erschienen in: Acta Neuropathologica / Ausgabe 1/2024
Print ISSN: 0001-6322
Elektronische ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-024-02741-x

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