Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant

On behalf of the ALLFTD Consortium; Peter S. Pressman; Danelle J. Carter; Eliana Marisa Ramos; Joie Molden; Kaitlin Smith; Francesca Dino; Corey McMillan; David Irwin; Katya Rascovsky; Nupur Ghoshal; Marguerite Knudtson; Rosa Rademakers; Daniel Geschwind; Tania Gendron; Leonard Petrucelli; Hilary Heuer; Bradley F. Boeve; Sami Barmada; Adam Boxer; Maria Luisa Gorno Tempini; Howard J. Rosen

doi:10.1080/13554794.2024.2354540

Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant

On behalf of the ALLFTD Consortium, Peter S. Pressman, Danelle J. Carter, Eliana Marisa Ramos, Joie Molden, Kaitlin Smith, Francesca Dino, Corey McMillan, David Irwin, Katya Rascovsky, Nupur Ghoshal, Marguerite Knudtson, Rosa Rademakers, Daniel Geschwind, Tania Gendron, Leonard Petrucelli, Hilary Heuer, Bradley F. Boeve, Sami Barmada, Adam BoxerMaria Luisa Gorno Tempini, Howard J. Rosen

Research output: Contribution to journal › Article › peer-review

Abstract

We present a longitudinal description of a man with the TARDBP I383V variant of frontotemporal dementia (FTD). His progressive changes in behavior and language resulted in a diagnosis of the right temporal variant of FTD, also called the semantic behavioral variant (sbvFTD). We also present data from a small series of patients with the TARDBP I383V variant who were enrolled in a nationwide FTD research collaboration (ALLFTD). These data support slowly progressive loss of semantic function. While semantic dementia is infrequently considered genetic, the TARDBP I383V variant seems to be an exception. Longitudinal analyses in larger samples are warranted.

Original language	English
Pages (from-to)	39-47
Number of pages	9
Journal	Neurocase
Volume	30
Issue number	1
DOIs	https://doi.org/10.1080/13554794.2024.2354540
State	Published - 2024

Keywords

Frontotemporal dementia
TARDBP
right temporal FTD
semantic behavioral variant FTD
semantic dementia

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10.1080/13554794.2024.2354540

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On behalf of the ALLFTD Consortium, Pressman, P. S., Carter, D. J., Ramos, E. M., Molden, J., Smith, K., Dino, F., McMillan, C., Irwin, D., Rascovsky, K., Ghoshal, N., Knudtson, M., Rademakers, R., Geschwind, D., Gendron, T., Petrucelli, L., Heuer, H., Boeve, B. F., Barmada, S., ... Rosen, H. J. (2024). Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant. Neurocase, 30(1), 39-47. https://doi.org/10.1080/13554794.2024.2354540

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title = "Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant",

abstract = "We present a longitudinal description of a man with the TARDBP I383V variant of frontotemporal dementia (FTD). His progressive changes in behavior and language resulted in a diagnosis of the right temporal variant of FTD, also called the semantic behavioral variant (sbvFTD). We also present data from a small series of patients with the TARDBP I383V variant who were enrolled in a nationwide FTD research collaboration (ALLFTD). These data support slowly progressive loss of semantic function. While semantic dementia is infrequently considered genetic, the TARDBP I383V variant seems to be an exception. Longitudinal analyses in larger samples are warranted.",

keywords = "Frontotemporal dementia, TARDBP, right temporal FTD, semantic behavioral variant FTD, semantic dementia",

author = "{ On behalf of the ALLFTD Consortium} and Pressman, {Peter S.} and Carter, {Danelle J.} and Ramos, {Eliana Marisa} and Joie Molden and Kaitlin Smith and Francesca Dino and Corey McMillan and David Irwin and Katya Rascovsky and Nupur Ghoshal and Marguerite Knudtson and Rosa Rademakers and Daniel Geschwind and Tania Gendron and Leonard Petrucelli and Hilary Heuer and Boeve, {Bradley F.} and Sami Barmada and Adam Boxer and Tempini, {Maria Luisa Gorno} and Rosen, {Howard J.}",

note = "Publisher Copyright: {\textcopyright} 2024 Informa UK Limited, trading as Taylor & Francis Group.",

year = "2024",

doi = "10.1080/13554794.2024.2354540",

language = "English",

volume = "30",

pages = "39--47",

journal = "Neurocase",

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On behalf of the ALLFTD Consortium, Pressman, PS, Carter, DJ, Ramos, EM, Molden, J, Smith, K, Dino, F, McMillan, C, Irwin, D, Rascovsky, K, Ghoshal, N, Knudtson, M, Rademakers, R, Geschwind, D, Gendron, T, Petrucelli, L, Heuer, H, Boeve, BF, Barmada, S, Boxer, A, Tempini, MLG & Rosen, HJ 2024, 'Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant', Neurocase, vol. 30, no. 1, pp. 39-47. https://doi.org/10.1080/13554794.2024.2354540

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T1 - Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant

AU - On behalf of the ALLFTD Consortium

AU - Pressman, Peter S.

AU - Carter, Danelle J.

AU - Ramos, Eliana Marisa

AU - Molden, Joie

AU - Smith, Kaitlin

AU - Dino, Francesca

AU - McMillan, Corey

AU - Irwin, David

AU - Rascovsky, Katya

AU - Ghoshal, Nupur

AU - Knudtson, Marguerite

AU - Rademakers, Rosa

AU - Geschwind, Daniel

AU - Gendron, Tania

AU - Petrucelli, Leonard

AU - Heuer, Hilary

AU - Boeve, Bradley F.

AU - Barmada, Sami

AU - Boxer, Adam

AU - Tempini, Maria Luisa Gorno

AU - Rosen, Howard J.

PY - 2024

Y1 - 2024

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AB - We present a longitudinal description of a man with the TARDBP I383V variant of frontotemporal dementia (FTD). His progressive changes in behavior and language resulted in a diagnosis of the right temporal variant of FTD, also called the semantic behavioral variant (sbvFTD). We also present data from a small series of patients with the TARDBP I383V variant who were enrolled in a nationwide FTD research collaboration (ALLFTD). These data support slowly progressive loss of semantic function. While semantic dementia is infrequently considered genetic, the TARDBP I383V variant seems to be an exception. Longitudinal analyses in larger samples are warranted.

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ER -

Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant

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