Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene

Creutzfeldt-Jakob disease (CJD), the most known human prion disease, is usually sporadic but approximately 15% of the cases are familial. To date, seven CJD cases with codon 210 mutation (GTT to ATT) have been reported in the literature. We describe a case of a 57 year-old woman who presented gait disturbances and rapidly progressive dementia, leading to death four months after onset. Electroencephalogram revealed periodic activity, diffusion-weighted magnetic resonance imaging showed hypersignal in basal ganglia, and test for 14-3-3 protein was strongly positive in the CSF. The complete prion protein gene coding region was sequenced after PCR amplification, showing a point mutation in codon 210. This is the first case of CJD with codon 210 mutation diagnosed in Brazil. We emphasize the role of genetic search for prion protein gene mutation, even in patients presenting clinical features resembling sporadic CJD.

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New haplotype of familial Creutzfeldt-Jakob disease with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family

Acta Neuropathologica ◽

10.1007/pl00007415 ◽

2000 ◽

Vol 99 (2) ◽

pp. 125-130 ◽

Cited By ~ 13

Author(s):

Haruo Seno ◽

Hirofumi Tashiro ◽

Hiroshi Ishino ◽

Takuji Inagaki ◽

Makoto Nagasaki ◽

...

Keyword(s):

Prion Protein ◽

Protein Gene ◽

Prion Protein Gene ◽

Japanese Family ◽

Jakob Disease

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Prion protein gene analysis in new variant cases of Creutzfeldt-Jakob disease

The Lancet ◽

10.1016/s0140-6736(05)64378-4 ◽

1996 ◽

Vol 348 (9019) ◽

pp. 56 ◽

Cited By ~ 74

Author(s):

John Collinge ◽

Jonathan Beck ◽

Tracy Campbell ◽

Kathy Estibeiro ◽

Robert G Will

Keyword(s):

Prion Protein ◽

Protein Gene ◽

Gene Analysis ◽

Prion Protein Gene ◽

New Variant ◽

Jakob Disease

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Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt–Jakob disease

Journal of Clinical Neuroscience ◽

10.1016/j.jocn.2013.03.016 ◽

2014 ◽

Vol 21 (1) ◽

pp. 175-178 ◽

Cited By ~ 9

Author(s):

Hongliang Zhang ◽

Meibo Wang ◽

Limin Wu ◽

Haining Zhang ◽

Tao Jin ◽

...

Keyword(s):

Prion Protein ◽

Gene Mutation ◽

Protein Gene ◽

Prion Protein Gene ◽

Jakob Disease

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The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt–Jakob Disease

Cells ◽

10.3390/cells10113132 ◽

2021 ◽

Vol 10 (11) ◽

pp. 3132

Author(s):

Yong-Chan Kim ◽

Byung-Hoon Jeong

Keyword(s):

Prion Protein ◽

Protein Gene ◽

Meta Analysis ◽

Prnp Gene ◽

Case Control ◽

Prion Protein Gene ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Jakob Disease ◽

Sporadic Cjd

Prion diseases are fatal, chronic, and incurable neurodegenerative diseases caused by pathogenic forms of prion protein (PrPSc) derived from endogenous forms of prion protein (PrPC). Several case–control and genome-wide association studies have reported that the M129V polymorphism of the human prion protein gene (PRNP) is significantly associated with susceptibility to sporadic Creutzfeldt–Jakob disease (CJD). However, since some case–control studies have not shown these associations, the results remain controversial. We collected data that contain the genotype and allele frequencies of the M129V single-nucleotide polymorphism (SNP) of the PRNP gene and information on ethnic backgrounds from sporadic CJD patients. We performed a meta-analysis by collecting data from eligible studies to evaluate the association between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD. We found a very strong association between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD using a meta-analysis for the first time. We validated the eligibility of existing reports and found severe heterogeneity in some previous studies. We also found that the MM homozygote is a potent risk factor for sporadic CJD compared to the MV heterozygote in the heterozygote comparison model (MM vs. MV, odds ratio = 4.9611, 95% confidence interval: 3.4785; 7.0758, p < 1 × 10−10). To the best of our knowledge, this was the first meta-analysis assessment of the relationship between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD.

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