|
rs1567887777
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1567888461
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs193026789
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs63749801
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs63749817
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs63751035
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs63751035
|
|
CTG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs794729669
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs794729670
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs794729671
|
|
GT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs794729672
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1291370551
|
|
|
0.020 |
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 |
|
rs1291370551
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, elevated FLNC expression levels, observed previously in FTLD-TDP patients, were mainly attributable to FTD patients with the progranulin (GRN) p.0(IVS1 + 5G > C) loss-of-function mutation.
|
26555887 |
2015 |
|
rs63751294
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The patients with the PGRN R493X mutation had a clinical presentation comparable with other behavior-predominant FTD patients.
|
16983677 |
2006 |
|
rs63751294
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Conversely, an asymmetric degenerative process was seen in all 3 PGRN cases, who presented with either corticobasal syndrome (A9D) or frontotemporal dementia and language deterioration (IVS6-2A>G and R493X).
|
18322394 |
2008 |
|
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 |
|
rs1386649838
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel (p.Thr262Ser and p.Arg159Ser) and one reported (p.Met158Val) VCP mutations in three patients with a clinical diagnosis of FTD were identified, and were absence in population-match controls.
|
30103325 |
2018 |
|
rs63750043
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense changes were identified in an ALS-FTD patient (p.S120Y) and in a single case of limb onset sporadic ALS (p.T182M), although the pathogenicity of these variants remains unclear.
|
17371905 |
2007 |
|
rs63750411
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first two mutations (p.T272SfsX10, p.R110X) are the most frequent ones in Italy in FTD patients; the latter two (p.C149LfsX10 and p.W304C) are not described in the scientific literature.
|
29614680 |
2018 |
|
rs63750412
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A third PGRN sequence variation (R433W) was found in an FTD patient with family history of ALS.
|
17202431 |
2007 |
|
rs63750541
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, two non-synonymous changes were detected: G168S change in exon 5 was found in a single patient, with no family history, who showed a mixed FTLD/MND picture and A324T change in exon 9 was found in two cases; one case of frontotemporal dementia (FTD) with a sister with FTD+MND and the other in a case of progressive non-fluent aphasia (PNFA) without any apparent family history.
|
18192287 |
2008 |
|
rs750312986
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first two mutations (p.T272SfsX10, p.R110X) are the most frequent ones in Italy in FTD patients; the latter two (p.C149LfsX10 and p.W304C) are not described in the scientific literature.
|
29614680 |
2018 |
|
rs753070659
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, two non-synonymous changes were detected: G168S change in exon 5 was found in a single patient, with no family history, who showed a mixed FTLD/MND picture and A324T change in exon 9 was found in two cases; one case of frontotemporal dementia (FTD) with a sister with FTD+MND and the other in a case of progressive non-fluent aphasia (PNFA) without any apparent family history.
|
18192287 |
2008 |
|
rs9897526
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The V363I variation was associated with frontotemporal dementia only in the proband which was also homozygous for the A allele of the progranulin single-nucleotide polymorphism rs9897526 and for methionine at codon 129 of the prion protein gene.
|
21343707 |
2011 |
|
rs5848
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In support of these findings, the neuropathology of homozygous rs5848 T-allele carriers frequently resembled the pathological FTLD-U subtype of GRN mutation carriers.
|
18723524 |
2008 |