Llibre-Guerra JJ, Lee SE, Suemoto CK, Ehrenberg AJ, Kovacs GG, Karydas A, Staffaroni A, Franca Resende EP, Kim EJ, Hwang JH, Ramos EM, Wojta KJ, Pasquini L, Pang SY, Spina S, Allen IE, Kramer J, Miller BL, Seeley WW, Grinberg LT. A novel temporal-predominant neuro-astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS-TDP. Brain Pathol. 2021 Mar;31(2):267-282. Epub 2021 Feb 11 PubMed.
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University of California, San Francisco
In frontotemporal dementia, tau and TDP43 rarely appear together. People with #FTLD-TDP and TMEM106B polymorphism A/A have an odds ratio of 13.9 (crude) or 31.3 (multivariate) to develop a distinct 4R tauopathy.
We investigated 90 FTLD-TDP cases—all types, genetic and sporadic. Sixteen had a singular temporal-predominant neuroglial tauopathy. In the population, one-third of people have a TMEM106B A/A genotype; however, 93.7 percent of FTLD-TDP cases with this tauopathy had an A/A genotype. This singular tauopathy involves neurons and glia, is 4-repeat tau, and shows many tau post-translational modifications.
The hot spot is the inferior temporal gyrus. Tau and TDP-43 inclusions do NOT overlap. The findings were validated in an independent series from Gabor Kovacs and colleagues. I am unaware of another genetic polymorphism linked to TDP43 and tau comorbidity.
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