ArticleBMJ open2014
Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene.
Article in BMJ open, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.International journal of molecular sciences · 2022Pooled it
- A noninvasive test for human prion disease using hair roots and scalp.Scientific reports · 2025Article
- Review
- Prion protein E219K polymorphism: from the discovery of the KANNO blood group to interventions for human prion disease.Frontiers in neurology · 2024Review
- Article
- Altered properties of amyloidogenic prion protein in genetic Creutzfeldt-Jakob disease with PRNP V180I mutation in response to pentosan polysulfate.Brain pathology (Zurich, Switzerland) · 2023Article
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
- Article
- Estimation of the number of inherited prion disease mutation carriers in the UK.European journal of human genetics : EJHG · 2022Article
- Biochemical and Neuropathological Findings in a Creutzfeldt-Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene.International journal of molecular sciences · 2022Article
- Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage.Cureus · 2022Article
- Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.Frontiers in aging neuroscience · 2022Article
- Huntington's disease: lessons from prion disorders.Journal of neurology · 2021Article
- Article
- Serial evaluation of swallowing function in a long-term survivor of V180I genetic Creutzfeldt-Jakob disease.Prion · 2020Article
- Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease.Prion · 2020Article
- Atomic insights into the effects of pathological mutants through the disruption of hydrophobic core in the prion protein.Scientific reports · 2019Article
- Clinical Laboratory Tests Used To Aid in Diagnosis of Human Prion Disease.Journal of clinical microbiology · 2019Review
- Retinal correlates of neurological disorders.Therapeutic advances in chronic disease · 2019Review
- Early-onset Alzheimer's disease patient with prionNeuropsychiatric disease and treatment · 2019Article
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesGenetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings. However, few systematic observations about the clinical features in patients with this unique mutation have been published. Therefore, the goal of this study was to relate this mutation to other forms of CJD from a clinical perspective.
designWe analysed clinical symptoms, prion protein genetics, biomarkers in cerebrospinal fluid (CSF) and MRI of patients.
participants186 Japanese patients with the V180I mutation in PRNP.
resultsOur results indicate that the V180I mutation caused CJD at an older age, with a slower progression and a lower possibility of developing myoclonus, cerebellar, pyramidal signs and visual disturbance compared with classical sporadic CJD with methionine homozygosity at codon 129 of PRNP. Cognitive impairment was the major symptom. Diffuse hyperintensity of the cerebral cortex in diffusion-weighted MRI might be helpful for diagnosis. Owing to the low positivity of PrP(Sc) in the CSF, genetic analysis was often required for a differential diagnosis from slowly progressive dementia.
conclusionsWe 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.
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