Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
TREM2 (triggering receptor expressed on myeloid cells 2) gene variants were reported to increase the risk of Alzheimer's disease (AD) and even other neurodegenerative diseases (frontotemporal dementia (FTD), Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS)), but so far, no definite conclusion has been drawn.
|
30883352 |
2019 |
Frontotemporal dementia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.
|
30111356 |
2018 |
Frontotemporal dementia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We used stem cell-derived microglia to study the consequences of missense mutations in the microglial-expressed protein triggering receptor expressed on myeloid cells 2 (TREM2), which are causal for frontotemporal dementia-like syndrome and Nasu-Hakola disease.
|
29606617 |
2018 |
Frontotemporal dementia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Soluble TREM2 was elevated in both dementia groups but did not show any difference between AD and FTD.
|
30292090 |
2018 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
TREM2 variants have also been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and frontotemporal dementia.
|
30033062 |
2018 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We confirm previous data that homozygous and compound heterozygous TREM2 mutations can be causative for FTD.
|
29557178 |
2018 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Biallelic loss-of-function mutations in TYROBP and TREM2 cause a rare disease that resembles early-onset frontotemporal dementia with bone lesions called polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL).
|
29336840 |
2018 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Given recent findings of enrichment of rare TREM2 variants (including R47C) in Alzheimer's disease, it is notable that we detected a homozygous TREM2 R47C carrier presenting with an FTD rather than an Alzheimer's disease phenotype.
|
29748150 |
2018 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.
|
29578490 |
2018 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous TREM2 missense mutations, such as p.T66M, lead to the FTD-like syndrome, but how they cause pathology is unknown.
|
28559417 |
2017 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, variants in TREM2 were also associated with frontotemporal dementia and Alzheimer's disease.
|
28716534 |
2017 |
Frontotemporal dementia
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Parkinsonism, movement disorders and genetics in frontotemporal dementia.
|
26891767 |
2016 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The previously reported functional mutation rs75932628-T (p.R47H) in the triggering receptor expressed on myeloid cells 2 (TREM2) is a genetic risk factor for Alzheimer's disease, Parkinson's disease (PD) and frontotemporal dementia, in European populations.
|
26758262 |
2016 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Several heterozygous missense mutations in the triggering receptor expressed on myeloid cells 2 (TREM2) have recently been linked to risk for a number of neurological disorders including Alzheimer disease (AD), Parkinson disease, and frontotemporal dementia.
|
26374899 |
2015 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia.
|
24041969 |
2014 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The FTD and AD groups were not significantly different with regard to TREM2 genetic variation frequency (AD: 2.6%, p = 0.39).
|
24139279 |
2014 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We used next generation sequencing of the whole gene (n = 700), exon 2 Sanger sequencing (n = 2634), p.R47H genotyping (n = 3518), and genome wide association study imputation (n = 13,048) to determine whether TREM2 variants are risk factors or phenotypic modifiers in patients with AD (n = 1002), frontotemporal dementia (n = 358), sporadic (n = 2500), and variant (n = 115) Creutzfeldt-Jakob disease (CJD).
|
25160042 |
2014 |
Frontotemporal dementia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The entire coding sequence of TREM2 was sequenced in FTD-S patients of Spanish (n = 539) and German (n = 63) origin.
|
25042114 |
2014 |
Frontotemporal dementia
|
0.500 |
Biomarker
|
disease |
BEFREE |
A decrease in soluble TREM2 was also observed in the CSF of patients with AD and FTD, further suggesting that reduced TREM2 function may contribute to increased risk for two neurodegenerative disorders.
|
24990881 |
2014 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data corroborate and extend previous findings to include an increased frequency of rare heterozygous TREM2 variations in AD and FTD, and show that TREM2 variants may play a role in neurodegenerative diseases in general.
|
24119542 |
2014 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.
|
24910390 |
2014 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.
|
23318515 |
2013 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that the TREM2 p.R47H substitution is a risk factor for frontotemporal dementia and Parkinson's disease in addition to Alzheimer's disease.
|
23800361 |
2013 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conclude that TREM2 mutations are extremely rare in patients with pure FTD, although further investigation in larger populations is needed.
|
23759145 |
2013 |
Frontotemporal dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we further confirm the association of TREM2 mutations with FTD-like phenotypes by reporting the first compound heterozygous mutation in a Turkish family.
|
23870839 |
2013 |