Somatic TARDBP variants as a cause of semantic dementia

Netherlands Brain Bank; Jeroen van Rooij; Merel O. Mol; Shamiram Melhem; Pelle van der Wal; Pascal Arp; Francesca Paron; Laura Donker Kaat; Harro Seelaar; Suzanne S. M. Miedema; Takuya Oshima; Bart J. L. Eggen; Andre Uitterlinden; Joyce van Meurs; Ronald E. van Kesteren; August B. Smit; Emanuele Buratti; John C. van Swieten

doi:10.1093/brain/awaa317

Somatic TARDBP variants as a cause of semantic dementia

Netherlands Brain Bank, Jeroen van Rooij, Merel O. Mol, Shamiram Melhem, Pelle van der Wal, Pascal Arp, Francesca Paron, Laura Donker Kaat, Harro Seelaar, Suzanne S. M. Miedema, Takuya Oshima, Bart J. L. Eggen, Andre Uitterlinden, Joyce van Meurs, Ronald E. van Kesteren, August B. Smit, Emanuele Buratti, John C. van Swieten^*

^*Corresponding author for this work

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

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Abstract

The aetiology of late-onset neurodegenerative diseases is largely unknown. Here we investigated whether de novo somatic variants for semantic dementia can be detected, thereby arguing for a more general role of somatic variants in neurodegenerative disease. Semantic dementia is characterized by a non-familial occurrence, early onset (

Original language	English
Pages (from-to)	3827-3841
Number of pages	15
Journal	Brain
Volume	143
DOIs	https://doi.org/10.1093/brain/awaa317
Publication status	Published - Dec-2020

Keywords

semantic dementia
somatic variants
TARDBP
TDP-43

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10.1093/brain/awaa317Licence: CC BY-NC

Somatic TARDBP variants as a cause of semantic dementia Final publisher's version, 1 MBLicence: CC BY-NC

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Netherlands Brain Bank, van Rooij, J., Mol, M. O., Melhem, S., van der Wal, P., Arp, P., Paron, F., Kaat, L. D., Seelaar, H., Miedema, S. S. M., Oshima, T., Eggen, B. J. L., Uitterlinden, A., van Meurs, J., van Kesteren, R. E., Smit, A. B., Buratti, E., & van Swieten, J. C. (2020). Somatic TARDBP variants as a cause of semantic dementia. Brain, 143, 3827-3841. https://doi.org/10.1093/brain/awaa317

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title = "Somatic TARDBP variants as a cause of semantic dementia",

abstract = "The aetiology of late-onset neurodegenerative diseases is largely unknown. Here we investigated whether de novo somatic variants for semantic dementia can be detected, thereby arguing for a more general role of somatic variants in neurodegenerative disease. Semantic dementia is characterized by a non-familial occurrence, early onset (",

keywords = "semantic dementia, somatic variants, TARDBP, TDP-43",

author = "{Netherlands Brain Bank} and {van Rooij}, Jeroen and Mol, {Merel O.} and Shamiram Melhem and {van der Wal}, Pelle and Pascal Arp and Francesca Paron and Kaat, {Laura Donker} and Harro Seelaar and Miedema, {Suzanne S. M.} and Takuya Oshima and Eggen, {Bart J. L.} and Andre Uitterlinden and {van Meurs}, Joyce and {van Kesteren}, {Ronald E.} and Smit, {August B.} and Emanuele Buratti and {van Swieten}, {John C.}",

year = "2020",

month = dec,

doi = "10.1093/brain/awaa317",

language = "English",

volume = "143",

pages = "3827--3841",

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Netherlands Brain Bank, van Rooij, J, Mol, MO, Melhem, S, van der Wal, P, Arp, P, Paron, F, Kaat, LD, Seelaar, H, Miedema, SSM, Oshima, T, Eggen, BJL, Uitterlinden, A, van Meurs, J, van Kesteren, RE, Smit, AB, Buratti, E & van Swieten, JC 2020, 'Somatic TARDBP variants as a cause of semantic dementia', Brain, vol. 143, pp. 3827-3841. https://doi.org/10.1093/brain/awaa317

TY - JOUR

T1 - Somatic TARDBP variants as a cause of semantic dementia

AU - Netherlands Brain Bank

AU - van Rooij, Jeroen

AU - Mol, Merel O.

AU - Melhem, Shamiram

AU - van der Wal, Pelle

AU - Arp, Pascal

AU - Paron, Francesca

AU - Kaat, Laura Donker

AU - Seelaar, Harro

AU - Miedema, Suzanne S. M.

AU - Oshima, Takuya

AU - Eggen, Bart J. L.

AU - Uitterlinden, Andre

AU - van Meurs, Joyce

AU - van Kesteren, Ronald E.

AU - Smit, August B.

AU - Buratti, Emanuele

AU - van Swieten, John C.

PY - 2020/12

Y1 - 2020/12

N2 - The aetiology of late-onset neurodegenerative diseases is largely unknown. Here we investigated whether de novo somatic variants for semantic dementia can be detected, thereby arguing for a more general role of somatic variants in neurodegenerative disease. Semantic dementia is characterized by a non-familial occurrence, early onset (

AB - The aetiology of late-onset neurodegenerative diseases is largely unknown. Here we investigated whether de novo somatic variants for semantic dementia can be detected, thereby arguing for a more general role of somatic variants in neurodegenerative disease. Semantic dementia is characterized by a non-familial occurrence, early onset (

KW - semantic dementia

KW - somatic variants

KW - TARDBP

KW - TDP-43

U2 - 10.1093/brain/awaa317

DO - 10.1093/brain/awaa317

M3 - Article

SN - 0006-8950

VL - 143

SP - 3827

EP - 3841

JO - Brain

JF - Brain

ER -

Somatic TARDBP variants as a cause of semantic dementia

Abstract

Keywords

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