Article
A novel temporal-predominant neuro-astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS-TDP.
Brain pathology (Zurich, Switzerland) - 1 Mar 2021
Llibre-Guerra Jorge J, Lee Suzee E, Suemoto Claudia K, Ehrenberg Alexander J, Kovacs Gabor G, Karydas Anna, Staffaroni Adam, Franca Resende Elisa De Paula, Kim Eun-Joo, Hwang Ji-Hye, Ramos Eliana Marisa, Wojta Kevin J, Pasquini Lorenzo, Pang Shirley Yin-Yu, Spina Salvatore, Allen Isabel E, Kramer Joel, Miller Bruce L, Seeley William W, Grinberg Lea T
Abstract excerpt
Polymorphisms in TMEM106B, a gene on chromosome 7p21.3 involved in lysosomal trafficking, correlates to worse neuropathological, and clinical outcomes in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) with TDP-43 inclusions. In a small cohort of C9orf72 expansion carriers, we previously found an atypical, neuroglial tauopathy in cases harboring a TMEM106B rs1990622 A/A genotype....
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