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 |
Biomarker
|
disease |
BEFREE |
Besides, CJD is commonly mistaken for other forms of dementia.
|
31734530 |
2019 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Patients with an alternative diagnosis and those with sCJD were of similar age, sex and frequency of dementia but CJD mimics had a longer clinical history.
|
29142140 |
2018 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Gerstmann-Sträussler-Scheinker syndrome caused by the P102L mutation in the prion protein gene (GSS102) is usually characterized by the onset of slowly progressive cerebellar ataxia, with dementia occurring much later.
|
28131204 |
2017 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We developed gene panel based technologies to assess 16 genes known to harbour mutations causal of dementia and combined these with PCR based assessments of the C9orf72 hexanucleotide repeat expansion and the octapeptide repeat region of PRNP.
|
23998997 |
2014 |
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 |
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 |
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 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
There was a significant correlation between clinical symptoms and the neuroanatomical distribution of prion protein-immunoreactive aggregates, i.e. subtentorial predominance in ataxia vs cortical predominance in dementia.
|
22211828 |
2012 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series.
|
21193246 |
2012 |
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 |
The APOBEC-related mutations were higher in healthy controls than in cases suffering from neurodegeneration, with the exception of the dementia group with the prion protein gene (PRNP) MV genotype.
|
21218337 |
2011 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened the PRNP gene to evaluate the frequency of PRNP mutations and their correlations with clinical phenotype in 185 sporadic neurodegenerative dementia cases and 310 control subjects.
|
18425766 |
2008 |
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 |
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 |
The psychiatric symptoms in young patients with sCJD are similar to the psychiatric symptoms expressed by patients with variant CJD; however, in contrast with the variant cases, young patients with sCJD experience development of prominent dementia early in the disease course.
|
16037975 |
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 |
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 |
Investigation of these patients, including two with neuropathologically verified AD and one with post-mortem confirmed CJD, did not reveal an alternative aetiology for their dementia.
|
14991353 |
2004 |