Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Moreover, since selective thalamic dementia with the PrP 178Asn mutation and fatal familial insomnia share clinical and histopathologic features, we propose that they are the same disease.
|
1357593 |
1992 |
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 |
This variant GSS with codon 105 mutation has been found in four pedigrees, only in Japan up to the present, and the clinicopathological phenotype is summarized as follows: (1) onset at age 38-48, with a duration of 7-11 years, (2) prominent spastic paraparesis, associated with dementia and ataxia, (3) numerous amyloid plaques in the cerebral cortex, (4) amorphous PrP deposits with neuronal loss in the deep cortical layers, and (5) minor change of cerebellum.
|
7699395 |
1994 |
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 |
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 |
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 |
Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene.
|
8595485 |
1995 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
GSS and PrP-CAA are associated with point mutations of the prion protein gene (PRNP); these conditions show a broad spectrum of clinical presentation, the main signs being ataxia, spastic paraparesis, extrapyramidal signs and dementia.
|
8737929 |
1996 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Using this system, we found a new mutation of the PrP gene in a patient with pathologically confirmed Creutzfeldt-Jakob disease and a negative family history for dementia.
|
8909447 |
1996 |
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 |
Biomarker
|
disease |
BEFREE |
Two additional variants, which included a thalamic form of CJD and a phenotype characterized by prominent dementia and cortical pathology, were linked to PrP(Sc) type 2 and methionine homozygosity.
|
10443888 |
1999 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A new mutation in the prion protein gene: a patient with dementia and white matter changes.
|
11061272 |
2000 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
CTD_human |
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
|
17192785 |
2007 |
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 |
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 |
Here, we describe one of these cases and stress the importance of genetic screening of PRNP in early onset dementia cases.
|
19571725 |
2010 |