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

Rapidly progressive dementia syndrome associated with a novel four extra repeat mutation in the prion protein gene.

Journal of neurology, neurosurgery, and psychiatry - 1 Jun 2002

Yanagihara C, Yasuda M, Maeda K, Miyoshi K, Nishimura Y

Abstract excerpt

OBJECTIVE: To gain a better understanding of how mutations of the prion protein (PrP) gene are responsible for progressive dementia syndrome and to clarify the correlation between genotype and phenotype, which should help to explain how the prion promotes neurological symptoms. BACKGROUND: Genetic prion diseases are associated with point or insertional mutations in the PrP gene. The insertional mutations...

Read the complete abstract on PubMed

Topics

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

Share to Creutzfeldt-Jakob Syndrome
Share to Dementia

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

Share to Disease Progression

Share to Electroencephalography

Share to Genotype

Share to Prions

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 12023426
DOI: 10.1136/jnnp.72.6.788
PMCID: PMC1737919

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

Rapidly progressive dementia syndrome associated with a novel four extra repeat mutation in the prion protein gene.PMID 12023426Read ↗

Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene.Semantic proximity Read ↗

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

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

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

Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia.Semantic proximity Read ↗

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

A new mutation in the prion protein gene: a patient with dementia and white matter changes.Semantic proximity Read ↗

Octapeptide repeat insertions in the prion protein gene and early onset dementia.Semantic proximity Read ↗

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

Prion disease with 144 base pair insertion in a Japanese family line.Semantic proximity Read ↗

Hereditary Human Prion Diseases: an Update.Semantic proximity Read ↗

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