rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
|
8909447 |
1996 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
|
7902693 |
1993 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.
|
25482600 |
2014 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
|
1671440 |
1991 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.
|
7906019 |
1994 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Pathological progression of genetic Creutzfeldt-Jakob disease with a PrP V180I mutation.
|
29264994 |
2018 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Serial diffusion-weighted MRI and SPECT findings in a Creutzfeldt-Jakob disease patient with V180I mutation.
|
21094959 |
2011 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
From the present observations, the author speculated that pathological laughing and crying may be a comparatively frequent observation in V180I CJD patients.
|
22658899 |
2012 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
|
8461023 |
1993 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
|
8461023 |
1993 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We report a 75-yr-old woman with familial CJD carrying a V180I mutation which features late onset, slow progression, no periodic sharp wave complexes on electroencephalography, and extensive cortical ribboning with spared the cerebellum and the medial occipital lobes posterior to the parieto-occipital sulcus on MRI.
|
20592908 |
2010 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
|
1439789 |
1992 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We conclude that the V180I mutation in PRNP produces a late-developing and slow-developing, less severe form of CJD, whose lesions are uniquely distributed compared with sporadic and other genetic forms of CJD.
|
24838726 |
2014 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology.
|
19703264 |
2010 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
|
19927125 |
2010 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
These clinicopathological findings led us to several conclusions relative to the early disease pathology of V180I genetic Creutzfeldt-Jakob disease: (i) spongiform change was not found in the medial occipital cortex, which corresponds to the results of DWI; (ii) VaSNoC-type spongiform changes, extensively recognized in the cerebral cortex, corresponded to the DWI findings showing continued hyperintensity with higher brightness, and T2-weighted and FLAIR images findings showing a swelling; and (iii) spongiform changes first appear in the deeper layer and subsequently in the superficial layer in the cerebral cortex.
|
30216556 |
2018 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.
|
7913755 |
1994 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
On the basis of the magnetic resonance imaging findings and the findings of previous case reports of V180I gCJD, we speculate that the characteristic extensive cerebrocortical involvement observed in V180I gCJD was implicated in the pathogenesis of the facial mimicry observed in this case.
|
31387445 |
2019 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
V180I CJD is an interesting form of genetic CJD with regards to the clinicopathologic, molecular and genetic findings.
|
21269331 |
2011 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L.
|
23555862 |
2013 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene.
|
29382530 |
2018 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We believe that pathological laughing and an exaggerated startle reaction are possible pathognomonic findings of V180I genetic Creutzfeldt-Jakob disease.
|
28703419 |
2017 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
The effect of disease-associated mutations on the folding pathway of human prion protein.
|
14761942 |
2004 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
|
10790216 |
2000 |
rs74315408
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The present study reported DWI results in cases of familial CJD with a V180I mutation (CJD180) in the prion protein gene as well as neurological findings.
|
20051687 |
2009 |