Article
Somatic TARDBP variants as a cause of semantic dementia.
Brain : a journal of neurology - 1 Dec 2020
van Rooij Jeroen, Mol Merel O, Melhem Shamiram, van der Wal Pelle, Arp Pascal, Paron Francesca, Donker Kaat Laura, Seelaar Harro, Miedema Suzanne S M, Oshima Takuya, Eggen Bart J L, Uitterlinden André, van Meurs Joyce, van Kesteren Ronald E, Smit August B, Buratti Emanuele, van Swieten John C
Abstract excerpt
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 (<65 years), focal temporal atrophy and TDP-43 pathology. To test whether somatic...
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