Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Primary Progressive Aphasia (disorder)
0.060 Biomarker disease BEFREE Multimodal <sup>18</sup>F-AV-1451 and MRI findings in non-fluent variant primary progressive aphasia: possible insights on nodal propagation of tau protein across the syntactic network. 31350322 2020
Primary Progressive Aphasia (disorder)
0.060 GeneticVariation disease BEFREE Stratification was performed by clinical diagnosis (180 behavioural variant FTD (bvFTD), 85 semantic variant primary progressive aphasia (svPPA), 114 nonfluent variant PPA (nfvPPA), 15 PPA not otherwise specified (PPA-NOS), and 8 with associated motor neurone disease (FTD-MND), genetic diagnosis (27 MAPT, 28 C9orf72, 18 GRN), and pathological confirmation (37 tauopathy, 38 TDP-43opathy, 4 FUSopathy). 31696638 2020
Primary Progressive Aphasia (disorder)
0.060 GeneticVariation disease BEFREE Rare risk variants, TREM2 R47H and MAPT A152T, were associated with a three- to seven-fold increase in risk for PPA. 30599136 2019
Primary Progressive Aphasia (disorder)
0.060 GeneticVariation disease BEFREE In comparison, 36% of the PPA patients had a family history and 5 (5%) had a genetic mutation detected: MAPT (n = 0), GRN (n = 3) and C9ORF72 (n = 2). 25765123 2015
Primary Progressive Aphasia (disorder)
0.060 GeneticVariation disease BEFREE However, for FTD with motor neurone disease (FTD+MND), semantic dementia or primary progressive aphasia (PA), the histological profile was either ubiquitin type or DLDH type; Pick-type histology was seen in only 1 case of PA. None of these latter three clinical subtypes was associated with a mutation in tau gene and FTDP-17 type of tau pathology. 16222525 2005
Primary Progressive Aphasia (disorder)
0.060 GeneticVariation disease BEFREE The authors screened for tau gene mutations and polymorphisms to determine whether genetic variation at or near the tau locus contributes to the development of primary progressive aphasia (PPA). 12629248 2003