|
rs10101195
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
|
29724592 |
2018 |
|
rs1012826460
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We consider G55R to be a candidate mutation for bvFTD since additional criteria required to establish causality are not yet available for assessment.
|
24086739 |
2013 |
|
rs1026683055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
rs1038579230
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
rs1048775
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.
|
26154020 |
2015 |
|
rs104893877
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A screen of Greek patients presenting with frontotemporal dementia failed to identify any additional subjects with the p.A53T SNCA mutation.
|
28012952 |
2017 |
|
rs1050210428
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, Coppola and colleagues demonstrated that a rare microtubule-associated protein tau (MAPT) sequence variant, c.454G>A (p.A152T) significantly increases the risk of frontotemporal dementia (FTD) spectrum disorders and Alzheimer disease (AD) in a screen of 15,369 subjects.
|
23518664 |
2014 |
|
rs1057518919
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis.
|
29930232 |
2018 |
|
rs1085307051
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1157289563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD.
|
16240349 |
2005 |
|
rs1181028283
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript.
|
28069311 |
2017 |
|
rs1182182524
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia.
|
27789411 |
2016 |
|
rs1189501362
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neuropathological and biochemical findings are reported in a patient who had suffered from frontotemporal dementia associated with a P310L mutation in the tau gene and included in the H1 haplotype.
|
14757934 |
2003 |
|
rs1205185774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neuropathological and biochemical findings are reported in a patient who had suffered from frontotemporal dementia associated with a P310L mutation in the tau gene and included in the H1 haplotype.
|
14757934 |
2003 |
|
rs121909329
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.
|
18341608 |
2008 |
|
rs121909329
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Therefore, we propose that hIBMPFTD p97/VCP mutants p97(R155P) and p97(A232E) possess structural defects that may compromise the mechanism of p97/VCP activity within large multiprotein complexes.
|
19506019 |
2009 |
|
rs121909330
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Among them, 2 were previously identified in pedigrees with a constellation of inclusion body myopathy with Paget disease of the bone and frontotemporal dementia (IBMPFD) and in FALS, and 2 other mutations (p.R159C and p.R155C) in IBMPFD alone.
|
23152587 |
2012 |
|
rs121909330
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here, we report the central nervous system autopsy findings in a 55-year-old German patient with inclusion body myopathy and frontotemporal dementia who harbors a heterozygous R155C missense mutation residing in the N-terminal CDC48 domain of VCP, which is involved in ubiquitin binding.
|
15732117 |
2005 |
|
rs121909330
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family.
|
21320982 |
2011 |
|
rs121909331
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we have tested ten major inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia-linked mutants for ATPase activity and found that all have increased activity over the wild type, with one mutant, p97(A232E), having three times higher activity.
|
22270372 |
2012 |
|
rs121909331
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Therefore, we propose that hIBMPFTD p97/VCP mutants p97(R155P) and p97(A232E) possess structural defects that may compromise the mechanism of p97/VCP activity within large multiprotein complexes.
|
19506019 |
2009 |
|
rs121909334
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proband's brain displayed FTLD-TDP type IV and Braak stage five Parkinson's disease (PD).A VCP R191Q mutation was found.
|
22900631 |
2013 |
|
rs121909335
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Increased FLNC levels were, to a lesser extent, also identified in a FLNC p.V831I variant carrier and in FTD patients with the p.R159H mutation in valosin-containing protein (VCP).
|
26555887 |
2015 |
|
rs121909335
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two nonsynonymous mutations were detected; 1 known mutation (p.R159H) in a patient with familial ALS with several family members suffering from FTD, and 1 mutation (p.I114V) in a patient with sporadic ALS.
|
22078486 |
2012 |
|
rs121909345
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD.
|
16240349 |
2005 |