TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Primary Progressive Aphasia (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 Biomarker disease BEFREE There were no significant differences between clinical syndromes (PPA subtypes), the main clinical forms of dementia (frontotemporal dementia and AD), or the expected pathological groups (frontotemporal lobar degeneration-tau [FTLD-tau], FTLD-TDP43, and AD). 31640103 2019
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 Biomarker disease BEFREE Seventy-three presenile subjects were included: Amyloid/Tau group (33 Alzheimer's disease with confirmed cerebrospinal fluid [CSF] biomarkers), probable TDP-43 group (7 semantic variant progressive primary aphasia, 5 GRN and 2 C9orf72 mutation carriers) and 26 healthy controls. 29935415 2018
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 Biomarker disease MGD
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 Biomarker disease BEFREE This study investigated the presence of combined pathologies in a large cohort of autopsies that show a primary pathologic diagnosis of phosphorylated 43-kDa TAR DNA-binding protein (FTLD-TDP), the majority of which portrayed clinical phenotypes consistent with primary progressive aphasia or behavioral variant frontotemporal dementia (bvFTD). 29584904 2018
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 AlteredExpression disease BEFREE Antibodies to phospho-TDP-43, NeuN (neuronal nuclei), and HLA-DR were used to visualize inclusions, neurons, and activated microglia in paraffin-embedded tissue sections from 4 participants with PPA: 2 of the agrammatic and 2 of the logopenic subtype. 26791154 2016
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 Biomarker disease BEFREE Our results show that while pathogenic variants within the most common dementia genes were rarely associated with PPA, these were found almost exclusively in GRN and C9orf72, suggesting that PPA is more TDP43- than tau-related in our series. 30599136 2019
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 Biomarker disease BEFREE Activated microglia and TDP-43 inclusions were visualized in whole-hemisphere brain sections using immunohistochemical methods from five participants with PPA-TDP. 29665116 2018
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 GeneticVariation disease BEFREE In an autopsy cohort of PPA (FTLD-TDP = 13, FTLD-Tau = 14), we analyzed laterality and regional distribution of postmortem pathology, quantified using a validated digital histopathological approach, in available brain tissue from up to 8 cortical regions bilaterally. 30851133 2019
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 Biomarker disease BEFREE Brain sections from 5 PPA participants with postmortem diagnoses of frontotemporal lobar degeneration with TDP-43 pathology (FTLD-TDP) were immunohistochemically stained using an antibody to phosphorylated TDP-43 and quantitatively examined for regional and hemispheric distribution using unbiased stereology. 30753613 2019
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 GeneticVariation disease BEFREE All prior TDP-43 type C cases from the UCL FTD cohort (n=25) had a semantic variant PPA (svPPA) phenotype, with all having a younger age at onset and longer disease duration than the nfvPPA case. 31747857 2020
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 GeneticVariation disease BEFREE To quantitatively examine the regional densities and hemispheric distribution of the 43-kDa transactive response DNA-binding protein (TDP-43) inclusions, neurons, and activated microglia in a left-handed patient with right hemisphere language dominance and logopenic-variant primary progressive aphasia (PPA). 29305438 2018
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 Biomarker disease BEFREE These results demonstrate a phenotypically concordant distribution of abnormal TDP-43 inclusions in primary progressive aphasia (PPA). 20479359 2010
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.300 Biomarker disease BEFREE Autopsy data revealed Alzheimer disease pathology as the most common pathologic diagnosis in lvPPA (76%), frontotemporal lobar degeneration-TDP-43 in svPPA (80%), and frontotemporal lobar degeneration-TDP-43/tau in nfvPPA (64%). 30255971 2018