rs759834365
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Role of BDNF val66met polymorphism on the association between physical activity and incident dementia.
|
20172629 |
2011 |
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 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 |
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 |
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 |
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 |
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 |
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 |
Tau pathology in a family with dementia and a P301L mutation in tau.
|
10218629 |
1999 |
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 |
Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is involved in folate and homocysteine metabolism, and has been associated with geriatric disorders, including dementia and late-life depression.
|
22668858 |
2012 |
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The authors designed this longitudinal study to determine if high tHcy and the MTHFR C677T polymorphism increase the risk of incident dementia among older men.
|
21746742 |
2012 |
rs1217691063
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Present study attempted to see the importance of ACE alu insertion/deletion and MTHFR C677T polymorphisms as genetic predisposers to dementia.
|
19716217 |
2009 |
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 |
rs104893877
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Therefore, the unraveled tau-mediated signaling cascade may contribute to the pathogenesis of dementia in A53T α-synuclein-linked familial PD cases, as well as some subgroups of PD cases with extensive tau pathology.<b>SIGNIFICANCE STATEMENT</b> Here, we report mutation-specific postsynaptic deficits that are caused by A53T mutant α-synuclein, which is linked to familial Parkinson's disease (PD).
|
30249789 |
2018 |
rs104893877
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results confirm that the p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia, particularly in cases with early onset and/or autosomal dominant family history.
|
29233723 |
2018 |
rs429358
|
|
|
0.030 |
GeneticVariation |
BEFREE |
There was no interaction between rs9331896 in CLU and rs429358 (defining the ɛ4 allele) in APOE in predicting Alzheimer's disease or all dementia (P = 0.39 and P = 0.21).
|
29534716 |
2018 |
rs104893877
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Moreover, cerebrospinal fluid (CSF) levels of tau, p-tau and amyloid Aβ42 were measured in these patients and in an additional cohort of 5 symptomatic and 2 asymptomatic p.A53T carriers without an initial manifestation of dementia.
|
28012952 |
2017 |
rs5882
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Consecutive outpatients with late-onset AD were assessed for age at dementia onset and Neuropsychiatric Inventory scores according to Clinical Dementia Rating scores, apolipoprotein E gene (APOE) haplotypes, angiotensin-converting enzyme gene (ACE) variants rs1800764 and rs4291, low-density lipoprotein cholesterol receptor gene (LDLR) variants rs11669576 and rs5930, cholesteryl ester transfer protein gene (CETP) variants I422V and TaqIB, and liver X receptor beta gene (NR1H2) polymorphism rs2695121.
|
28099631 |
2017 |
rs63750231
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This study aimed to determine Consortium to Establish a Registry for Alzheimer's Disease (CERAD) Neuropsychological Assessment Battery total score diagnostic accuracy in the diagnosis of mild cognitive impairment (MCI) and dementia in familial Alzheimer's disease (FAD) with E280A mutation on presenilin-1 gene (PSEN1).
|
26478578 |
2016 |
rs63750756
|
|
|
0.030 |
GeneticVariation |
BEFREE |
However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia.
|
26295349 |
2015 |
rs63750424
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation.
|
23727082 |
2014 |
rs5882
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Using data from two ongoing epidemiologic clinical-pathologic cohort studies of aging and dementia in the United States, the Religious Order Study and the Memory and Aging Project, we evaluated the association of the CETP I405V polymorphism (rs5882) with cognitive decline and risk of incident AD in more than 1300 participants of European ancestry.
|
22122979 |
2012 |
rs63750231
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Clinical deterioration can be detected as measurable cognitive impairment around two decades before dementia onset in PSEN1 E280A carriers.
|
21296022 |
2011 |