ArticleBMC neurology2021
Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease.
Article in BMC neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Understanding Creutzfeldt-Jakob disease in Iran: a systematic review of case reports.The Journal of international medical research · 2024Pooled it
- Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.Acta neuropathologica · 2026Article
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
- Review
- Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.Alzheimer's research & therapy · 2021Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundInherited prion diseases are rare autosomal dominant disorders associated with diverse clinical presentations. All are associated with mutation of the gene that encodes prion protein (PRNP). Homozygous mutations with atypical clinical phenotypes have been described but are extremely rare. CASE PRESENTATION: A Chinese patient presented with a rapidly progressive cognitive and motor disorder in the clinical spectrum of sCJD. Investigations strongly suggested a diagnosis of CJD. He was found to carry a homozygous mutation at PRNP codon 200 (E200D), but there was no known family history of the disorder. The estimated allele frequency of E200D in East Asian populations is incompatible with it being a highly penetrant mutation in the heterozygous state.
conclusionIn our view the homozygous PRNP E200D genotype is likely to be causal of CJD in this patient. Homotypic PrP interactions are well known to favour the development of prion disease. The case is compatible with recessively inherited prion disease.
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