Behavioral variant of frontotemporal dementia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
We performed <sup>18</sup>F-flortaucipir imaging in patients with the FTD syndromes (n = 45): nonfluent variant primary progressive aphasia (nfvPPA) (n = 11), corticobasal syndrome (CBS) (n = 10), behavioral variant frontotemporal dementia (bvFTD) (n = 10), semantic variant primary progressive aphasia (svPPA) (n = 2) and FTD associated pathogenic genetic mutations microtubule-associated protein tau (MAPT) (n = 6), chromosome 9 open reading frame 72 (C9ORF72) (n = 5), and progranulin (GRN) (n = 1).
|
30704514 |
2019 |
Behavioral variant of frontotemporal dementia
|
0.390 |
Biomarker
|
disease |
BEFREE |
Human studies have shown that presymptomatic GRN carriers feature reduced connectivity in the salience network, a system targeted in bvFTD.
|
30921613 |
2019 |
Behavioral variant of frontotemporal dementia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
In this study, we described the clinical characteristics of 7 Italian patients, 5 with a diagnosis of frontotemporal dementia behavioral variant and 2 of corticobasal syndrome (CBS), carrying the GRN deletion g.101349_101355delCTGCTGT, resulting in the C157KfsX97 null mutation, and hypothesized the existence of a founder effect by means of haplotype sharing analysis.
|
27814992 |
2017 |
Behavioral variant of frontotemporal dementia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
The novel GRN g.1159_1160delTG mutation is associated with behavioral variant frontotemporal dementia.
|
25261445 |
2015 |
Behavioral variant of frontotemporal dementia
|
0.390 |
AlteredExpression
|
disease |
BEFREE |
Low PGRN levels were detected in 7 individuals (5 behavioral variant frontotemporal dementia, 1 CBS, and 1 still clinically unaffected) that constituted the group of the null PGRN mutation carriers previously identified in our molecular diagnostic laboratory.
|
24022032 |
2014 |
Behavioral variant of frontotemporal dementia
|
0.390 |
SusceptibilityMutation
|
disease |
ORPHANET |
Clinic, neuropathology and molecular genetics of frontotemporal dementia: a mini-review.
|
23597030 |
2013 |
Behavioral variant of frontotemporal dementia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
The clinical presentation of the GRN A9D missense mutation is not restricted to behavioral variant frontotemporal dementia and may include aphasia, extrapyramidal features, and, notably, amyotrophic lateral sclerosis.
|
23596077 |
2013 |
Behavioral variant of frontotemporal dementia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Progranulin (GRN) mutations are typically associated with the behavioral variant of frontotemporal dementia and the non-fluent variant of primary progressive aphasia phenotypes.
|
23624518 |
2013 |
Behavioral variant of frontotemporal dementia
|
0.390 |
SusceptibilityMutation
|
disease |
ORPHANET |
Neuroimaging and biochemical markers in the three variants of primary progressive aphasia.
|
23392204 |
2013 |
Behavioral variant of frontotemporal dementia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Herein, we describe the clinical, neuropathological, and genetic findings in a case of autosomal dominant behavioral variant of frontotemporal dementia (bvFTD) with asymmetrical parkinsonism and prominent visuospatial deficits that carries a novel GRN mutation.
|
22366770 |
2012 |
Behavioral variant of frontotemporal dementia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
PGRN mutations at 17q21 may occur in apparently sporadic frontotemporal lobar dementia with ubiquitinated inclusions cases and in cases presenting with either primary progressive aphasia or the behavioral variant of frontotemporal dementia.
|
17522386 |
2007 |