Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.010 GeneticVariation disease BEFREE Data were recorded from 272 patients from the cohort of the German consortium for frontotemporal lobar degeneration (FTLDc): 111 with behavioral variant frontotemporal dementia (bvFTD), 98 with primary progressive aphasia (PPA), 30 with progressive supranuclear palsy Richardson's syndrome, 17 with corticobasal syndrome (CBS) and 16 with amyotrophic lateral sclerosis with frontotemporal dementia (ALS/FTD). 30506397 2019
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.010 GeneticVariation disease BEFREE Data were recorded from 272 patients from the cohort of the German consortium for frontotemporal lobar degeneration (FTLDc): 111 with behavioral variant frontotemporal dementia (bvFTD), 98 with primary progressive aphasia (PPA), 30 with progressive supranuclear palsy Richardson's syndrome, 17 with corticobasal syndrome (CBS) and 16 with amyotrophic lateral sclerosis with frontotemporal dementia (ALS/FTD). 30506397 2019
Entrez Id: 25823
Gene Symbol: TPSG1
TPSG1
0.010 Biomarker disease BEFREE The behavioral results revealed deficits in the bvFTD group on intentionality attribution that were specific for the ToM condition after controlling for global cognitive functioning (MMSE-score), visual attention (TMT B-score), fluid intelligence (RCPMT-score) and confrontation naming (BNT-score). 30884367 2019
Entrez Id: 100271718
Gene Symbol: AD16
AD16
0.010 Biomarker disease BEFREE One hundred and thirty three participants (45 Alzheimer's disease, 16 behavioral variant frontotemporal dementia, 8 non-fluent primary progressive aphasia, 10 progressive supranuclear palsy, 11 right-temporal frontotemporal dementia, 9 semantic variant primary progressive aphasia patients and 34 healthy controls) were video recorded while imitating static images of emotional faces and producing emotional expressions based on verbal command; the accuracy of their expression was rated by blinded raters. 28373956 2017
Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
0.010 Biomarker disease BEFREE Change in global measure of functional status (CDR box score) yielded the smallest sample size for bvFTD (n = 71), but clinical measures were inferior to white matter change for the other groups. 28975068 2017
Entrez Id: 1038
Gene Symbol: CDR1
CDR1
0.010 Biomarker disease BEFREE Change in global measure of functional status (CDR box score) yielded the smallest sample size for bvFTD (n = 71), but clinical measures were inferior to white matter change for the other groups. 28975068 2017
Entrez Id: 862
Gene Symbol: RUNX1T1
RUNX1T1
0.010 Biomarker disease BEFREE Change in global measure of functional status (CDR box score) yielded the smallest sample size for bvFTD (n = 71), but clinical measures were inferior to white matter change for the other groups. 28975068 2017
Entrez Id: 23336
Gene Symbol: SYNM
SYNM
0.010 Biomarker disease BEFREE Decreased FC was detected in posterior DMN in the AD group and in the Salience network in the bvFTD group after combining CV quality control with gmICA. 28119587 2016
Entrez Id: 29110
Gene Symbol: TBK1
TBK1
0.010 GeneticVariation disease BEFREE Six of seven TBK1 carriers were diagnosed with the behavioural variant of frontotemporal dementia, presenting predominantly as disinhibition. 26674655 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.010 GeneticVariation disease BEFREE In all, 303 patients with a clinical diagnosis of PSP (n = 157), CBS (n = 39), PPA (n = 35) and bvFTD (n = 72) and 587 neurologically healthy controls were screened for the most common GBA mutations. 26549049 2016
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
0.010 GeneticVariation disease BEFREE These results suggest that the 5-HTTLPR-s allele differentially influences brain morphology in bvFTD. 26509115 2015
Entrez Id: 5909
Gene Symbol: RAP1GAP
RAP1GAP
0.010 AlteredExpression disease BEFREE Real-time polymerase chain reaction (PCR) confirmed a significant decrease in leukocytes mRNA messenger RNA (mRNA) levels of RAP1GAP in bvFTD patients as compared with avPPA (p = 0.049). 24368088 2014
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
0.010 GeneticVariation disease BEFREE Our study demonstrates that DCTN1 mutations should be searched for in patients with clinical PSP-like phenotypes and a behavioral variant of frontotemporal dementia, especially when a familial history of dementia, psychiatric disturbances, associated parkinsonism, or an autosomal dominant disorder is present. 24343258 2014
Entrez Id: 4336
Gene Symbol: MOBP
MOBP
0.010 GeneticVariation disease BEFREE Eighty-one patients with sporadic bvFTD were genotyped for tauopathy-associated SNPs at rs8070723 (microtubule-associated protein tau [MAPT]) and rs1768208 (myelin-associated oligodendrocyte basic protein [MOBP]). 24994843 2014
Entrez Id: 341
Gene Symbol: APOC1
APOC1
0.010 GeneticVariation disease BEFREE LD (r2 = 0.35) between TOMM40 (rs2075650) and APOC1 (rs1064725) was observed in PPA, but not in controls and in bvFTD. 22710912 2012
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40
0.010 GeneticVariation disease BEFREE Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE (rs429358) was observed in PPA, but not in bvFTD and in controls. 22710912 2012
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
0.010 GeneticVariation disease BEFREE Three of them carried the CACT deletion in exon 7 and their clinical diagnosis was behavioral variant Frontotemporal Dementia. 19683260 2009
Entrez Id: 351
Gene Symbol: APP
APP
0.020 Biomarker disease BEFREE In this multicentre study, we aimed to assess the cortical microstructural changes in the behavioural variant of frontotemporal dementia (bvFTD); and to correlate cortical mean diffusivity with clinical measures of disease severity and CSF biomarkers (neurofilament light and the soluble fraction beta of the amyloid precursor protein). 30906945 2019
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.020 Biomarker disease BEFREE Individual FDG-PET data analyses showed that 20 patients exhibited a "typical" pattern for bvFTD with bifrontal and/or temporal hypometabolism (bvFTD/PET+), and that 10 patients showed a "non-typical"/normal pattern (bvFTD/PET-). 29614640 2018
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.020 GeneticVariation disease BEFREE We retrospectively compared <sup>18</sup>F-FDG PET-CT imaging patterns from seven iNPH patients (mean age 74 ± 6 years) to age and sex matched controls, as well as patients diagnosed with clinical Alzheimer's disease dementia (AD), Dementia with Lewy Bodies (DLB) and Parkinson's Disease Dementia (PDD), and behavioral variant frontotemporal dementia (bvFTD). 29876274 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.020 Biomarker disease BEFREE We analyzed 3 CSF biomarkers (YKL-40, soluble β fragment of amyloid precursor protein [sAPPβ], neurofilament light [NfL]) and core Alzheimer disease (AD) biomarkers (β-amyloid<sub>1-42</sub>, total tau, phosphorylated tau) in patients with FTLD-related clinical syndromes (n = 159): behavioral variant of frontotemporal dementia (n = 68), nonfluent (n = 23) and semantic (n = 19) variants of primary progressive aphasia, progressive supranuclear palsy (n = 28), and corticobasal syndrome (n = 21). 28592456 2017
Entrez Id: 1116
Gene Symbol: CHI3L1
CHI3L1
0.020 Biomarker disease BEFREE We analyzed 3 CSF biomarkers (YKL-40, soluble β fragment of amyloid precursor protein [sAPPβ], neurofilament light [NfL]) and core Alzheimer disease (AD) biomarkers (β-amyloid<sub>1-42</sub>, total tau, phosphorylated tau) in patients with FTLD-related clinical syndromes (n = 159): behavioral variant of frontotemporal dementia (n = 68), nonfluent (n = 23) and semantic (n = 19) variants of primary progressive aphasia, progressive supranuclear palsy (n = 28), and corticobasal syndrome (n = 21). 28592456 2017
Entrez Id: 1116
Gene Symbol: CHI3L1
CHI3L1
0.020 AlteredExpression disease BEFREE We found a good diagnostic accuracy for higher levels of CSF NfL and YKL40 and reduced p-tau/tau ratio in distinguishing bvFTD from PSY. 28337476 2017
Entrez Id: 348
Gene Symbol: APOE
APOE
0.020 GeneticVariation disease BEFREE The allele distribution differed between bvFTD and controls, but genotype and allele frequencies of APOE did not affect the risk of bvFTD, SD, and DLB. 26981880 2016
Entrez Id: 2521
Gene Symbol: FUS
FUS
0.020 Biomarker disease BEFREE This patient demonstrates the striking focality associated with FUS neuropathology in patients with bvFTD. 22060063 2012