Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP.

Prion - 1 Jan 2000

Chen Cao, Shi Qi, Tian Chan, Li Qing, Zhou Wei, Gao Chen, Han Jun, Dong Xiao-Ping

Abstract excerpt

A case of Creutzfeldt-Jakob disease (CJD) with a rare mutation of the prion protein (PrP) gene (PRNP) at codon 208 (R208H), while the codon 129 was a methionine homozygous genotype is reported. The patient initial displayed hand tremor, dizziness and progressive cognitive dysfunction. Subsequently, other symptoms gradually appeared, including cerebellar ataxia and mental disorder. No periodic activity was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Base Sequence
Share to Codon

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Creutzfeldt-Jakob Syndrome

Share to Homozygote

Share to Methionine

Share to Prion Proteins

Share to Prions

Source

Open in PubMed Open full text

Identifiers

PMID: 21791975
DOI: 10.4161/pri.5.3.16796
PMCID: PMC3226051

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP.PMID 21791975Read ↗

A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP.Semantic proximity Read ↗

Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease.Semantic proximity Read ↗

Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature.Semantic proximity Read ↗

Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Two Chinese patients of sporadic Creutzfeldt-Jacob disease with a S97N mutation in PRNP gene.Semantic proximity Read ↗

Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment.Semantic proximity Read ↗

Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.Semantic proximity Read ↗

Familial Creutzfeldt–Jakob DiseaseSemantic proximity Read ↗

Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Comparative Analysis of The Characteristics of The Chinese gCJD Patients With E196A and E196K Mutation in PRNPSemantic proximity Read ↗

Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.