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

Type 1 protease resistant prion protein and valine homozygosity at codon 129 of PRNP identify a subtype of sporadic Creutzfeldt-Jakob disease.

Journal of neurology, neurosurgery, and psychiatry - 1 Nov 1999

Worrall B B, Herman S T, Capellari S, Lynch T, Chin S, Gambetti P, Parchi P

Abstract excerpt

A man was studied with sporadic Creutzfeldt-Jakob disease (sCJD) who had serial cortical syndromes evolving over 15 months without significant ataxia, prominent myoclonus, or periodic complexes on EEG examinations. This clinical phenotype correlated with a predominantly cortical and striatal distribution of lesions and accumulation of protease resistant prion protein with relative sparing of the brainstem or...

Read the complete abstract on PubMed

Topics

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

Share to Codon
Share to Creutzfeldt-Jakob Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Homozygote

Share to Immunohistochemistry

Share to Prions

Share to Protease Inhibitors

Share to Valine

Source

Open in PubMed Open full text

Identifiers

PMID: 10519879
DOI: 10.1136/jnnp.67.5.671
PMCID: PMC1736644

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Type 1 protease resistant prion protein and valine homozygosity at codon 129 of PRNP identify a subtype of sporadic Creutzfeldt-Jakob disease.PMID 10519879Read ↗

Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.Semantic proximity Read ↗

Clinicopathological phenotype of codon 129 valine homozygote sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

A novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report.Semantic proximity Read ↗

Basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Neuropathologic variants of sporadic Creutzfeldt-Jakob disease and codon 129 of PrP gene.Semantic proximity Read ↗

Creutzfeldt-Jakob disease, prion protein gene codon 129VV, and a novel PrPSc type in a young British woman.Semantic proximity Read ↗

Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: atypical molecular phenotype.Semantic proximity Read ↗

A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.Semantic proximity Read ↗

Phenotypic Heterogeneity of Variably Protease-Sensitive Prionopathy: A Report of Three Cases Carrying Different Genotypes at PRNP Codon 129.Semantic proximity Read ↗

Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.Semantic proximity Read ↗

A novel phenotype of sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

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