Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here, we describe one of these cases and stress the importance of genetic screening of PRNP in early onset dementia cases.
|
19571725 |
2010 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic examination of the PRNP should be included in the diagnostic work-up of patients with poorly classifiable dementia.
|
19030774 |
2008 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
This new mutation extends the list of known pathogenic mutations responsible for genetic CJD, reinforces the clinical heterogeneity of the disease, and advocates for the inclusion of PRNP gene examination in the diagnostic workup of patients with poorly classifiable dementia, even in the absence of family history.
|
22763467 |
2013 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A two-octapeptide repeat deletion of the prion protein gene has been recently observed in a patient with a 2-year history of dementia and a clinical diagnosis of possible Creutzfeldt-Jakob disease (CJD).
|
12451210 |
2002 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening of the PRNP gene becomes of major importance in early onset autosomal dominant dementia.
|
21297264 |
2011 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Plasma total prion protein as a potential biomarker for neurodegenerative dementia: diagnostic accuracy in the spectrum of prion diseases.
|
31216593 |
2019 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dementia associated with a 216 base pair insertion in the prion protein gene. Clinical and neuropathological features.
|
8513392 |
1993 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
A growing list of phenotypes associated with prion protein loss are coincident with symptoms of neurodegenerative disease and dementia, though it remains contentious whether any such disruption of prion protein function contributes to disease aetiology.
|
29803646 |
2018 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We studied whether codon 129 polymorphism of the PrP gene modulates the presence of tau- and Abeta-associated lesions among 188 patients over 70 years of age without evidence of dementia.
|
12679875 |
2003 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Deposition of PrP amyloid in cerebral vessels in conjunction with neurofibrillary lesions is the neuropathologic hallmark of the dementia associated with a stop mutation at codon 145 of PRNP, the gene encoding the prion protein (PrP).
|
8570627 |
1996 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic examination of the PRNP gene should be included in the workup of patients with poorly classifiable dementia.
|
20613639 |
2010 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
|
17192785 |
2007 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Gerstmann-Sträussler syndrome (GSS) was diagnosed in a family with presenile dementia by prion protein gene analysis.
|
1973256 |
1990 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We present the clinical and neuropathological features of a family with an early and long-standing dementia manifesting with posterior cortical atrophy and related to a 120 bp insertional mutation of the prion protein gene.
|
21959360 |
2013 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
GSS, associated with a missense mutation at codon 102 of the prion protein (PrP) gene (GSS102), is a hereditary disorder that presents with progressive ataxia and dementia, and is characterized by the loss of deep tendon reflexes and painful dysesthesias of the legs in its early stage.
|
9932941 |
1999 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia.
|
12200619 |
2002 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Described is a large family with an autosomal dominant dementia associated with an H187R mutation in the prion protein gene (PRNP).
|
15824374 |
2005 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Octapeptide repeat insertions in the prion protein gene and early onset dementia.
|
15258222 |
2004 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
It is clinically characterized by spastic paraparesis and dementia and histopathologically defined by PrP-plaques in the brain.
|
30240140 |
2018 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt-Jakob disease (CJD).
|
8520719 |
1995 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This case supports the pathogenicity of the T188 PRNP mutation, demonstrates the variability of clinical phenotypes associated with certain mutations, and emphasizes the importance of testing for genetic prion disease in cases of apparently sporadic atypical dementia.
|
21107135 |
2010 |
Presenile dementia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Two patients (ages 56 and 57 years), both homozygous for valine-129, showed cerebellar ataxia and later dementia not associated with periodic electroencephalogram; brain PrPres was type 2.
|
11506406 |
2001 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
GSS is defined as a neurodegenerative disease "in family with dominantly inherited progressive ataxia and/or dementia): encephalo(myelo)pathy with multi-centric PrP plaques".
|
16903147 |
2004 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Besides, CJD is commonly mistaken for other forms of dementia.
|
31734530 |
2019 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Screening for mutations in the PRNP gene should be performed in all diagnosed cases of prion disease and in cases of familial occurrence of early onset dementia of unknown aetiology.
|
23319218 |
2013 |