ArticlePrion2014
Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene.
Article in Prion, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- Heritability and Genome-Wide Association Study of Dog Behavioral Phenotypes in a Commercial Breeding Cohort.Genes · 2024Article
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
- Review
- Article
- Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.Alzheimer's research & therapy · 2021Article
- Characterization of mutations inNeuropsychiatric disease and treatment · 2018Review
- Tau pathology in Creutzfeldt-Jakob disease revisited.Brain pathology (Zurich, Switzerland) · 2017Article
- Brain 18F-FDG PET/CT findings in a case of genetic Creutzfeldt-Jakob disease due to V203I heterozygous mutation in the PRNP gene.Journal of neurology · 2017Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a Japanese patient with Creutzfeldt-Jakob disease (CJD) with a V203I homozygous mutation of the prion protein gene (PRNP). A 73-year-old woman developed rapidly progressive gait disturbance and cognitive dysfunction. Four months after the onset, she entered a state of an akinetic mutism. Gene analysis revealed a homozygous V203I mutation in the PRNP. Familial CJD with a V203I mutation is rare, and all previously reported cases had a heterozygous mutation showing manifestations similar to those of typical sporadic CJD. Although genetic prion diseases with homozygous PRNP mutations often present with an earlier onset and more rapid clinical course than those with heterozygous mutations, no difference was found in clinical phenotype between our homozygous case and reported heterozygous cases.
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Registered trials
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