|
Creutzfeldt-Jakob disease
|
|
0.070 |
GeneticVariation
|
BEFREE |
Pathogenic mutations such as Y218N and E196K are known to cause Gerstmann-Sträussler-Scheinker syndrome and Creutzfeldt-Jakob disease, respectively.
|
24509603 |
2015 |
|
Creutzfeldt-Jakob disease
|
|
0.070 |
GeneticVariation
|
BEFREE |
For example, although 219E/K heterozygosity confers resistance against the development of sporadic CJD, this genotype is not entirely protective against acquired forms (iatrogenic CJD and variant CJD) or genetic forms (genetic CJD and Gerstmann-Sträussler-Scheinker syndrome) of prion diseases.
|
26022925 |
2015 |
|
Creutzfeldt-Jakob disease
|
|
0.070 |
GeneticVariation
|
BEFREE |
A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP.
|
21597335 |
2012 |
|
Creutzfeldt-Jakob disease
|
|
0.070 |
GeneticVariation
|
BEFREE |
Prion protein gene (PRNP) E219K is a human polymorphism commonly occurring in Asian populations but is rarely found in patients with sporadic Creutzfeldt-Jakob disease (CJD).
|
19074151 |
2009 |
|
Creutzfeldt-Jakob disease
|
|
0.070 |
GeneticVariation
|
BEFREE |
Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene.
|
18706660 |
2008 |
|
Creutzfeldt-Jakob disease
|
|
0.070 |
GeneticVariation
|
BEFREE |
A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP).
|
12815603 |
2003 |
|
Creutzfeldt-Jakob disease
|
|
0.070 |
GeneticVariation
|
BEFREE |
In addition, we examined 43 patients with dementia of non-CJD origin, and 4 were found to have the codon 219Glu/Lys heterozygous polymorphism with a similar allele frequency as in the general population.
|
9629853 |
1998 |
|
Sporadic CJD
|
|
0.030 |
GeneticVariation
|
BEFREE |
For example, although 219E/K heterozygosity confers resistance against the development of sporadic CJD, this genotype is not entirely protective against acquired forms (iatrogenic CJD and variant CJD) or genetic forms (genetic CJD and Gerstmann-Sträussler-Scheinker syndrome) of prion diseases.
|
26022925 |
2015 |
|
Prion Diseases
|
|
0.030 |
GeneticVariation
|
BEFREE |
For example, although 219E/K heterozygosity confers resistance against the development of sporadic CJD, this genotype is not entirely protective against acquired forms (iatrogenic CJD and variant CJD) or genetic forms (genetic CJD and Gerstmann-Sträussler-Scheinker syndrome) of prion diseases.
|
26022925 |
2015 |
|
Other Creutzfeldt-Jakob disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
For example, although 219E/K heterozygosity confers resistance against the development of sporadic CJD, this genotype is not entirely protective against acquired forms (iatrogenic CJD and variant CJD) or genetic forms (genetic CJD and Gerstmann-Sträussler-Scheinker syndrome) of prion diseases.
|
26022925 |
2015 |
|
Prion Diseases
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our data indicate that (i) the E196K mutation is causally linked to human prion disease, (ii) there is a complex phenotypic spectrum of this mutation that includes nonspecific symptoms at onset and features typical of sCJD during disease progression, and (iii) the corresponding histologic picture comprises both cases with atypical neuropathology and cases that closely resemble subtypes of sCJD corresponding to the classification of Parchi et al, with subtle modifications in hippocampal regions CA1-4.
|
21293298 |
2011 |
|
Other Creutzfeldt-Jakob disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Prion protein gene (PRNP) E219K is a human polymorphism commonly occurring in Asian populations but is rarely found in patients with sporadic Creutzfeldt-Jakob disease (CJD).
|
19074151 |
2009 |
|
Sporadic CJD
|
|
0.030 |
GeneticVariation
|
BEFREE |
Therefore, the protective effect of PRNP E219K against sporadic CJD might be due to heterozygous inhibition.
|
19074151 |
2009 |
|
Sporadic CJD
|
|
0.030 |
GeneticVariation
|
BEFREE |
E219K and D202D were not found in sporadic CJD (sCJD) cases and therefore may represent genetic risk factors for vCJD.Genetic analysis of 309 confirmed UK sCJD patients showed codon 129 genotype frequencies of MM: 59.5% (n = 184), MV: 21.4% (n = 66), and VV: 19.1% (n = 59).
|
20035629 |
2009 |
|
Prion Diseases
|
|
0.030 |
GeneticVariation
|
BEFREE |
The antibodies may help to explore the relationship of 219Glu/Lys polymorphism to the pathogenesis of human prion diseases.
|
10889337 |
2000 |
|
Other Creutzfeldt-Jakob disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
In addition, we examined 43 patients with dementia of non-CJD origin, and 4 were found to have the codon 219Glu/Lys heterozygous polymorphism with a similar allele frequency as in the general population.
|
9629853 |
1998 |
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
For example, although 219E/K heterozygosity confers resistance against the development of sporadic CJD, this genotype is not entirely protective against acquired forms (iatrogenic CJD and variant CJD) or genetic forms (genetic CJD and Gerstmann-Sträussler-Scheinker syndrome) of prion diseases.
|
26022925 |
2015 |
|
Creutzfeldt-Jakob Disease, Sporadic
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our data indicate that (i) the E196K mutation is causally linked to human prion disease, (ii) there is a complex phenotypic spectrum of this mutation that includes nonspecific symptoms at onset and features typical of sCJD during disease progression, and (iii) the corresponding histologic picture comprises both cases with atypical neuropathology and cases that closely resemble subtypes of sCJD corresponding to the classification of Parchi et al, with subtle modifications in hippocampal regions CA1-4.
|
21293298 |
2011 |
|
Creutzfeldt-Jakob Disease, Sporadic
|
|
0.020 |
GeneticVariation
|
BEFREE |
Prion protein gene (PRNP) E219K is a human polymorphism commonly occurring in Asian populations but is rarely found in patients with sporadic Creutzfeldt-Jakob disease (CJD).
|
19074151 |
2009 |
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene.
|
9153600 |
1997 |
|
Abnormal behavior
|
|
0.010 |
GeneticVariation
|
BEFREE |
Rare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalities.
|
20005032 |
2010 |
|
New Variant Creutzfeldt-Jakob Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The E219K polymorphism is neutral or may even confer susceptibility to vCJD.
|
20697057 |
2010 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
To gain insights into the molecular basis of these disorders, we performed 200 ns of classical molecular dynamic simulations in aqueous solution on wild type (WT) human PrP (HuPrP), and on three HuPrP variants located in the globular HuPrP domain: two pathological mutations, HuPrP(Q212P) and HuPrP(E200K), linked to GSS and to fCJD respectively, and one protective polymorphism, HuPrP(E219K) (total time-scale simulated 800 ns).
|
20806222 |
2010 |
|
Fatal Familial Insomnia
|
|
0.010 |
GeneticVariation
|
BEFREE |
A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP).
|
12815603 |
2003 |
|
nervous system disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
Familial history of neurologic disorders was evidenced for patients carrying the E196K and E211Q mutations.
|
10790216 |
2000 |