|
rs1427575965
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel variant p.S349P was found in a male sALS patient who presented with mild cognitive decline and a survival time of 1.23 years since onset.
|
29773329 |
2018 |
|
rs76495833
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.
|
26252872 |
2015 |
|
rs76444744
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.
|
26252872 |
2015 |
|
rs80356733
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a hereditary form of ALS with early spinal onset resulting in fatal respiratory insufficiency without clinical relevant bulbar symptoms or signs of cognitive impairment.
|
18779421 |
2008 |
|
rs80356734
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a hereditary form of ALS with early spinal onset resulting in fatal respiratory insufficiency without clinical relevant bulbar symptoms or signs of cognitive impairment.
|
18779421 |
2008 |
|
rs2251214
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Results showed that G homozygous (n = 146) have lower cognitive performance in the Stroop, Trail Making and Matrix Reasoning tests compared with A-allele carriers (n = 64), suggesting that rs2251214 may influence the severity of cognitive impairments in CUD.
|
31562556 |
2019 |
|
rs398122403
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome sequencing recently identified a homozygous truncating mutation in Synaptojanin 1 (SYNJ1, PARK20), p.Arg258Gln, in 2 independent families with autosomal recessive young-onset parkinsonism with seizures and cognitive decline.
|
26149920 |
2015 |
|
rs1314736087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Unexpectedly, we found that 4R NM human tau (hTau) exhibited abnormal dynamics in young mice that were lost with the P301L mutation, including elevated protein stability and hyperphosphorylation, which were associated with cognitive impairment in 5-month old rT1 mice.
|
31685653 |
2020 |
|
rs62256378
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinically, rs62256378 was associated with rate of cognitive decline in AD dementia patients (P = 3.1 × 10(-3)).
|
25027320 |
2014 |
|
rs1264499143
|
|
|
0.010 |
GeneticVariation |
BEFREE |
With a combination of homozygozity mapping and exome sequencing, we identified three mutations in STUB1 in two families with ARCA and cognitive impairment; a homozygous missense variant (c.194A > G, p.Asn65Ser) that segregated in three affected siblings, and a missense change (c.82G > A, p.Glu28Lys) which was inherited in trans with a nonsense mutation (c.430A > T, p.Lys144Ter) in another patient.
|
25258038 |
2014 |
|
rs690016544
|
|
|
0.010 |
GeneticVariation |
BEFREE |
With a combination of homozygozity mapping and exome sequencing, we identified three mutations in STUB1 in two families with ARCA and cognitive impairment; a homozygous missense variant (c.194A > G, p.Asn65Ser) that segregated in three affected siblings, and a missense change (c.82G > A, p.Glu28Lys) which was inherited in trans with a nonsense mutation (c.430A > T, p.Lys144Ter) in another patient.
|
25258038 |
2014 |
|
rs587777630
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs3936289
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Single-nucleotide polymorphisms are associated with cognitive decline at Alzheimer's disease conversion within mild cognitive impairment patients.
|
28560309 |
2017 |
|
rs11868035
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Secondary objectives include the analysis of the association between cognitive impairment and psychopathological status and, in a subgroup of patients, the evaluation of the effect of Sterol Regulatory Element Binding Transcription Factor 1 (SREBF-1) rs11868035 genetic polymorphism, previously associated with metabolic alterations, on both cognition and metabolic syndrome.
|
30581395 |
2018 |
|
rs1245342105
|
|
|
0.010 |
GeneticVariation |
BEFREE |
3xTg mice, which express an APP/PS1 mutation combined with a tau (P301L) mutation and that develop cognitive deficits at 6 months of age, were subjected to ELF-MF (50Hz, 500μT) exposure or sham exposure daily for 3 months.
|
26945731 |
2016 |
|
rs2070045
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sex moderates the effects of the Sorl1 gene rs2070045 polymorphism on cognitive impairment and disruption of the cingulum integrity in healthy elderly.
|
25598427 |
2015 |
|
rs121912456
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense mutation in exon 1, found in a patient with a slowly progressive disease course; ii) the G41S mutation, in four unrelated patients with rapidly progressive course complicated with cognitive decline in two of them; iii) the L114F mutation, in a patient with a slowly progressive phenotype; iv) the D90A mutation, in a heterozygous patient with atypical phenotype.
|
15789135 |
2005 |
|
rs121912433
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense mutation in exon 1, found in a patient with a slowly progressive disease course; ii) the G41S mutation, in four unrelated patients with rapidly progressive course complicated with cognitive decline in two of them; iii) the L114F mutation, in a patient with a slowly progressive phenotype; iv) the D90A mutation, in a heterozygous patient with atypical phenotype.
|
15789135 |
2005 |
|
rs121912438
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we examine whether prefrontal cortex neuronal abnormalities and related cognitive impairments are present in presymptomatic G93A Cu/Zn superoxide dismutase mice, a mouse model for familial ALS.
|
18081837 |
2008 |
|
rs80265967
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense mutation in exon 1, found in a patient with a slowly progressive disease course; ii) the G41S mutation, in four unrelated patients with rapidly progressive course complicated with cognitive decline in two of them; iii) the L114F mutation, in a patient with a slowly progressive phenotype; iv) the D90A mutation, in a heterozygous patient with atypical phenotype.
|
15789135 |
2005 |
|
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
TCE or TaClo did not appear to lead to acceleration of motor or cognitive deficits in either wild type or A30P mutant mice, potentially because of the modest reductions of DA neuronal number in the SNpc.
|
31422098 |
2019 |
|
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Neuropsychological testing in four mutation carriers provided evidence for cognitive impairment as a frequent and early symptom of the A30P mutation; this is also supported by regional cerebral energy metabolism alterations in the clinically presymptomatic subject.
|
11376188 |
2001 |
|
rs2583988
|
|
|
0.010 |
GeneticVariation |
BEFREE |
T-rs2583988, G-rs356219 and C-2736990 alleles were significantly more frequent in PD patients with cognitive impairments than controls in this condition.
|
28676755 |
2017 |
|
rs356219
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we found an interaction between SNP rs356219 and a specific clinical outcome, i.e., the increased risk for cognitive impairment in PD patients.
|
28676755 |
2017 |
|
rs104893877
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here we first provided evidence that RV treatment alleviated motor and cognitive deficits in the A53T α-synuclein mouse model of PD in a dose-dependent manner.
|
30462117 |
2018 |