rs2230288
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Mutation carriers (n = 60; 4.4%) and E326K carriers (n = 65; 4.7%) had a higher prevalence of dementia (mutations, odds ratio = 5.1; P = 9.7 × 10(-6) ; E326K, odds ratio = 6.4; P = 5.7 × 10(-7) ) and lower performance on Letter-Number Sequencing (mutations, corrected P[Pc ] = 9.0 × 10(-4) ; E326K, Pc = 0.036), Trail Making B-A (mutations, Pc = 0.018; E326K, Pc = 0.018), and Benton Judgment of Line Orientation (mutations, Pc = 0.0045; E326K, Pc = 0.0013).
|
26296077 |
2016 |
rs2230288
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A significantly higher proportion of E326K carriers (10 of 21 [47.6%]; P = .01) and GBA variant carriers (15 of 39 [38.5%]; P = .04) progressed to mild cognitive impairment or dementia.
|
27571329 |
2016 |
rs6265
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Effect of BDNF Val66Met polymorphism on regional white matter hyperintensities and cognitive function in elderly males without dementia.
|
24275008 |
2014 |
rs6265
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Neither allelic nor genotypic BDNF Val66Met SNP was associated with dementia or with BP (associated or not with clinical manifestation of dementia).
|
30220011 |
2018 |
rs6265
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and post-stroke dementia: a hospital-based study from northern Iran.
|
27071687 |
2016 |
rs6265
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Role of BDNF val66met polymorphism on the association between physical activity and incident dementia.
|
20172629 |
2011 |
rs6265
|
|
|
0.060 |
GeneticVariation |
BEFREE |
A total of 1,081 adults without dementia (375 healthy subjects and 706 individuals with mild cognitive impairment) were recruited from the Alzheimer's Disease Neuroimaging Initiative (ADNI) to test the influence of BDNF Val66Met polymorphism on cognitive impairment, brain structure atrophy, and change in the levels of CSF biomarkers.
|
30775992 |
2019 |
rs6265
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Among 200 outpatients with dementia and MCI, 146 outpatients with mild AD or A-MCI were recruited and divided into two genotypic groups, valine homozygosity (Val/Val) and methionine (Met) carriers, based on the representative BDNF functional polymorphism Val66Met.
|
22699449 |
2012 |
rs759834365
|
|
|
0.060 |
GeneticVariation |
BEFREE |
A total of 1,081 adults without dementia (375 healthy subjects and 706 individuals with mild cognitive impairment) were recruited from the Alzheimer's Disease Neuroimaging Initiative (ADNI) to test the influence of BDNF Val66Met polymorphism on cognitive impairment, brain structure atrophy, and change in the levels of CSF biomarkers.
|
30775992 |
2019 |
rs759834365
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Effect of BDNF Val66Met polymorphism on regional white matter hyperintensities and cognitive function in elderly males without dementia.
|
24275008 |
2014 |
rs759834365
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Role of BDNF val66met polymorphism on the association between physical activity and incident dementia.
|
20172629 |
2011 |
rs759834365
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Neither allelic nor genotypic BDNF Val66Met SNP was associated with dementia or with BP (associated or not with clinical manifestation of dementia).
|
30220011 |
2018 |
rs759834365
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Among 200 outpatients with dementia and MCI, 146 outpatients with mild AD or A-MCI were recruited and divided into two genotypic groups, valine homozygosity (Val/Val) and methionine (Met) carriers, based on the representative BDNF functional polymorphism Val66Met.
|
22699449 |
2012 |
rs759834365
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and post-stroke dementia: a hospital-based study from northern Iran.
|
27071687 |
2016 |
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Tau pathology in a family with dementia and a P301L mutation in tau.
|
10218629 |
1999 |
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history).
|
12876142 |
2003 |
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Because the mutations (V337M, P301L) are associated with genetic tauopathies, these results suggest that a factor in disease etiology of genetic tauopathies and other dementias with altered tau is a greater abundance of tau in the cytoplasm due to decreased binding to microtubules.
|
11170176 |
2001 |
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Altogether, these results suggest a sex dependent neuroprotective effect of LFPD in P301L-tg mice, suggesting that lifestyle intervention strategies may be clinically relevant for delaying the onset of cognitive impairment and dementia, especially in females.
|
28456717 |
2017 |
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
While tau modification and associated neuronal loss and hypometabolism start in the entorhinal cortex (EC) in early AD patients, the mechanism by which mutant P301L hTau leads to dementia is not fully elucidated.
|
28634382 |
2017 |
rs74315401
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia.
|
21167505 |
2011 |
rs74315401
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker syndrome caused by the P102L mutation in the prion protein gene (GSS102) is usually characterized by the onset of slowly progressive cerebellar ataxia, with dementia occurring much later.
|
28131204 |
2017 |
rs74315401
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia.
|
12200619 |
2002 |
rs74315401
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Conclusions Primary dementia with prominent frontotemporal signs is a new phenotypical expression of P102L-related GSS that coexists in the same family with the ataxic form of the disease.
|
19030774 |
2008 |
rs74315401
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt-Jakob disease (CJD).
|
8520719 |
1995 |
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Plasma total homocysteine levels and the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene: a study in an Italian population with dementia.
|
11589919 |
2001 |