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

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors.

Brain : a journal of neurology - 1 Jun 2011

Kaski Diego N, Pennington Catherine, Beck Jon, Poulter Mark, Uphill James, Bishop Matthew T, Linehan Jaqueline M, O'Malley Catherine, Wadsworth Jonathan D F, Joiner Susan, Knight Richard S G, Ironside James W, Brandner Sebastian, Collinge John, Mead Simon

Abstract excerpt

Genetic factors are implicated in the aetiology of sporadic late-onset neurodegenerative diseases. Whether these genetic variants are predominantly common or rare, and how multiple genetic factors interact with each other to cause disease is poorly understood. Inherited prion diseases are highly heterogeneous and may be clinically mistaken for sporadic Creutzfeldt-Jakob disease because of a negative family...

Read the complete abstract on PubMed

Topics

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

Share to Cerebral Cortex
Share to Chi-Square Distribution

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

Share to Cognition Disorders

Share to Electroencephalography

Share to Oligopeptides

Share to Prion Diseases

Share to Prions

Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 21616973
DOI: 10.1093/brain/awr079

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors.PMID 21616973Read ↗

Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.Semantic proximity Read ↗

Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology.Semantic proximity Read ↗

Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion.Semantic proximity Read ↗

A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.Semantic proximity Read ↗

Mutations and polymorphisms in the prion protein gene.Semantic proximity Read ↗

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).Semantic proximity Read ↗

A prion disease with a novel 96-base pair insertional mutation in the prion protein gene.Semantic proximity Read ↗

Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.Semantic proximity Read ↗

Novel prion protein insert mutation associated with prolonged neurodegenerative illness.Semantic proximity Read ↗

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.Semantic proximity Read ↗

Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129.Semantic proximity Read ↗

Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia.Semantic proximity Read ↗

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