|
rs12546767
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
|
24931836 |
2014 |
|
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 |
|
rs387906789
|
|
|
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 |
|
rs387906789
|
|
|
0.030 |
GeneticVariation |
BEFREE |
FTD was diagnosed in two individuals and suspected in the third one who also displayed muscle weakness.A VCP R159C mutation was found.
|
22900631 |
2013 |
|
rs387906789
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Several elements support the pathogenic role of the R159C VCP gene mutation: the occurrence at the same codon of a different, previously identified pathogenic mutation within a VCP gene mutational hot-spot, the histopathological and biochemical evidence of muscle VCP accumulation and the combined clinical presentation of IBM and FTD.
|
17889967 |
2009 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs514492
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A common splice-site variant rs514492 in the FTD-causal gene VCP showed a positive association with AD risk (P = 0.0003, OR = 1.618), whereas the rare missense variant rs33949390 (p. R 1628P) in the LBD-causal gene LRRK2 showed a protective effect on AD risk (P = 0.0004, OR = 0.170).
|
30954774 |
2019 |
|
rs767379602
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Time Course of Radiological Imaging and Variable Interindividual Symptoms in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated with p.Arg487His Mutation in the VCP Gene.
|
28738334 |
2017 |
|
rs863225291
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study expands the genotypic spectrum of the missense mutations of the VCP gene with a novel p.Asn91Tyr variant found in a Brazilian family presenting with the unusual intrafamiliar association of myopathy with rimmed vacuoles, ALS and FTD.
|
27538664 |
2016 |
|
rs4239633
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among 124 876 cases and controls, genome-wide conjunction analyses of ALS, FTD, PD, AD, CBD, and PSP revealed significant genetic overlap between ALS and FTD at known ALS loci: rs13302855 and rs3849942 (nearest gene, C9orf72; P = .03 for rs13302855 and P = .005 for rs3849942) and rs4239633 (nearest gene, UNC13A; P = .03).
|
29630712 |
2018 |
|
rs387906711
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Additionally, the P506S mutation can also cause an FTD phenotype.
|
23944734 |
2013 |
|
rs387906711
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here, we demonstrate that ALS/FTD UBQLN2 mutants P497H and P506T inhibit protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus in neuronal cells.
|
31802140 |
2019 |
|
rs387906711
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%).
|
30348461 |
2019 |
|
rs387906709
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%).
|
30348461 |
2019 |
|
rs387906709
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we demonstrate that ALS/FTD UBQLN2 mutants P497H and P506T inhibit protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus in neuronal cells.
|
31802140 |
2019 |
|
rs867403430
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data show not only that the IVS1 + 5G > C mutation has an exclusive association with FTLD-TDP type A proteinopathy but also that other proteinopathies can occur and should be looked for.
|
29370838 |
2018 |