GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
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) 		0.400 GeneticVariation disease BEFREE We report a case of a 58-year-old woman with nfvPPA diagnosis (age at onset = 55) previously described as a crossed aphasia case with progranulin mutation. 30923936 2019
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE This is consistent with the finding that PPA frequency in dominantly inherited dementias is the highest in kindreds with GRN variants. 30599136 2019
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE Mutations in progranulin (GRN) cause heterogeneous clinical syndromes, including behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), corticobasal syndrome (CBS) and Alzheimer-type dementia (AD-type dementia). 30921613 2019
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 Biomarker disease MGD Targeting Tyro3 ameliorates a model of PGRN-mutant FTLD-TDP via tau-mediated synaptic pathology. 29382817 2018
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 Biomarker disease MGD Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay. 29511098 2018
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE Considering the early onset and the positive family history (sister aged 50 with non-fluent/agrammatic variant of primary progressive aphasia, father with behavioral disturbances in his sixties), a genetic analysis was carried out, showing the presence of a novel mutation [g.9543delA (IVS3-2delA)] in a predicted splicing site of GRN. 27567822 2016
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE Asymmetric pathology in primary progressive aphasia with progranulin mutations and TDP inclusions. 26791154 2016
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 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
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 Biomarker disease MGD Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD. 25155018 2014
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 Biomarker disease BEFREE Progranulin-associated PiB-negative logopenic primary progressive aphasia. 24449064 2014
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE In particular, mutations in GRN account for 5-10% of all cases and give rise to a wide spectrum of clinical phenotypes, ranging from behavioral frontotemporal dementia (bvFTD) to primary progressive aphasia, including progressive non-fluent aphasia (PNFA) and semantic dementia, and corticobasal syndrome (CBS). 25024321 2014
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE Clinical and MRI correlates of disease progression in a case of nonfluent/agrammatic variant of primary progressive aphasia due to progranulin (GRN) Cys157LysfsX97 mutation. 24814951 2014
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE Novel missense progranulin gene mutation associated with the semantic variant of primary progressive aphasia. 23624518 2013
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype. 22072213 2012
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 Biomarker disease MGD Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury. 23041626 2012
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE PGRN Thr272fs mutation appears to be as either behavioral frontotemporal dementia (80%) or primary progressive aphasia (20%), it was equally distributed between male and female, and the mean age at onset was 59.6 ± 5.9 (range 53-68). 20947212 2011
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 Biomarker disease BEFREE This neuropsychological evidence suggests that GRN-PPA may result from damage involving the temporo-parietal junction and its functional connections in both the dorsal and ventral language networks, with implications for our understanding of language network pathophysiology. 19766663 2010
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE The most common abnormal behaviours in SD were irritability, disinhibition, depression and abnormal appetite, in PNFA apathy, agitation and depression, in LPA anxiety, irritability, agitation and apathy, and in GRN-PPA apathy and irritability. 20400120 2010
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE Brain tissue from a 65-year-old patient with PPA and progranulin mutation was analyzed using immunohistochemical methods for TDP-43. 20479359 2010
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE The importance of these findings is threefold: firstly, the clinico-anatomical entity of LPA has a profile of brain damage that is complementary to the network-based disorders of SD and PNFA; secondly, the core phonological processing deficit in LPA is likely to arise from temporo-parietal junction damage but disease spread occurs through the dorsal language network (and in GRN-PPA, also the ventral language network); and finally, GRN mutations provide a specific molecular substrate for language network dysfunction. 19679189 2010
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE The phenotypes associated with GRN mutations vary greatly: 20/32 (63%) carriers had fvFTD, the other (12/32, 37%) had clinical diagnoses of PPA, CBDS, Lewy body dementia or Alzheimer's disease. 18245784 2008
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease LHGDN PGRN mutations were found in four patients, two with clinical FTD and a positive family history, and two with clinical primary progressive aphasia (PPA), one with and one without a family history. 17522386 2007
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease LHGDN To describe progranulin gene mutations in 2 families with PPA. 17210807 2007
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE PGRN mutations were found in four patients, two with clinical FTD and a positive family history, and two with clinical primary progressive aphasia (PPA), one with and one without a family history. 17522386 2007
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		0.400 GeneticVariation disease BEFREE To describe progranulin gene mutations in 2 families with PPA. 17210807 2007