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Tau filaments with the chronic traumatic encephalopathy fold in a case of vacuolar tauopathy with VCP mutation D395G.
Qi, Chao; Kobayashi, Ryota; Kawakatsu, Shinobu; Kametani, Fuyuki; Scheres, Sjors H W; Goedert, Michel; Hasegawa, Masato.
Afiliación
  • Qi C; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK.
  • Kobayashi R; Department of Psychiatry, Yamagata University School of Medicine, Yamagata, Japan.
  • Kawakatsu S; Department of Neuropsychiatry, Aizu Medical Center, Fukushima Medical University, Aizuwakamatsu, Japan.
  • Kametani F; Department of Brain and Neurosciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
  • Scheres SHW; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK. scheres@mrc-lmb.cam.ac.uk.
  • Goedert M; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK. mg@mrc-lmb.cam.ac.uk.
  • Hasegawa M; Department of Brain and Neurosciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan. hasegawa-ms@igakuken.or.jp.
Acta Neuropathol ; 147(1): 86, 2024 05 17.
Article en En | MEDLINE | ID: mdl-38758288
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas tau / Tauopatías / Encefalopatía Traumática Crónica / Proteína que Contiene Valosina / Mutación Límite: Female / Humans / Male / Middle aged Idioma: En Revista: Acta Neuropathol Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Alemania

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas tau / Tauopatías / Encefalopatía Traumática Crónica / Proteína que Contiene Valosina / Mutación Límite: Female / Humans / Male / Middle aged Idioma: En Revista: Acta Neuropathol Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Alemania