|
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 |
|
rs63750900
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R269H PS1 mutation was associated with early age of dementia onset, higher amounts of total A beta and A beta x-42, and increased neuronal cytoskeletal changes.
|
9189043 |
1997 |
|
rs63751037
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Herein we report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 139 (M139V) of the PS-1 gene.
|
9728730 |
1998 |
|
rs63751273
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Tau pathology in a family with dementia and a P301L mutation in tau.
|
10218629 |
1999 |
|
rs63750756
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.
|
10412802 |
1999 |
|
rs63750231
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Individuals designated as FAD met the criteria for dementia and were positive for the E280A presenilin 1 mutation.
|
10923058 |
2000 |
|
rs63750264
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation in the APPgene (V717L) has been found in a family with a history of dementia, beginning in the mid to late 30s.
|
10867787 |
2000 |
|
rs63750512
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present findings indicate that the G389R mutation in Tau can cause a dementia similar to that in Pick's disease.
|
11193177 |
2000 |
|
rs63751399
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
|
11094121 |
2000 |
|
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 |
|
rs429358
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The apo E4 (Arg112-Cys) polymorphism has been associated with dementia and hypercholesterolemia.
|
11257253 |
2001 |
|
rs1805054
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to identify gene variants related to the serotonergic neurotransmitter system that possibly represent a hereditary risk factor for sporadic Alzheimer's disease (AD), patients suffering from AD and non-demented psychiatric inpatients without symptoms of dementia were genotyped for polymorphisms of HTR6 (267C/T) and HTR2A (-1438G/A).
|
11725820 |
2001 |
|
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 |
|
rs63750756
|
|
|
0.030 |
GeneticVariation |
BEFREE |
An N279K missense mutation in exon 10 of the tau gene reported in an American family with pallidopontonigral degeneration (PPND family) was recently found in members of a French kindred with dementia and supranuclear palsy.
|
12056930 |
2002 |
|
rs63750635
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In this article, we describe a novel missense mutation, S320F, in the tau gene in a family with presenile dementia.
|
11891833 |
2002 |
|
rs63750444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.
|
12111359 |
2002 |
|
rs63750959
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia.
|
11921059 |
2002 |
|
rs63750424
|
|
|
0.040 |
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
|
|
|
0.040 |
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 |
|
rs63750376
|
|
|
0.030 |
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 |
|
rs28936380
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We describe an Italian pedigree with hereditary dementia associated with a novel T122R mutation in the presenilin-2 gene (PSEN2).
|
14681895 |
2003 |
|
rs63750635
|
|
|
0.020 |
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 |
|
rs6313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to investigate the association of a serotonin transporter gene-linked polymorphic region (5-HTTLPR) and the 5-HT2A receptor T102C polymorphism with the risk of developing dementia and/or psychotic symptoms in a group of sporadic AD patients from Italy.
|
15000807 |
2003 |
|
rs63749855
|
|
|
0.010 |
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 |
|
rs63750424
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy.
|
15178940 |
2004 |