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 case of protease-sensitive prionopathy (PSPr) in The Netherlands: a patient with an unusual GSS-like clinical phenotype.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2010

Jansen C, Head M W, van Gool W A, Baas F, Yull H, Ironside J W, Rozemuller A J M

Abstract excerpt

An atypical case of prion disease is described in a 54-year-old Dutch man, homozygous for valine at codon 129 of the prion protein gene (PRNP). The clinical phenotype was characterised by progressive dementia, spastic paraplegia and sensorimotor polyneuropathy. The disease duration was 20 months. Genetic analysis of PRNP did not reveal any abnormalities. Neuropathologically, only mild spongiform change and a...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Endopeptidase K

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gerstmann-Straussler-Scheinker Disease

Share to Homozygote

Share to Netherlands

Share to Prion Proteins

Share to Prions

Share to PrPSc Proteins

Source

Identifiers

PMID: 20547632
DOI: 10.1136/jnnp.2009.175646

Genes

PRNP
GSS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The first case of protease-sensitive prionopathy (PSPr) in The Netherlands: a patient with an unusual GSS-like clinical phenotype.PMID 20547632Read ↗

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

A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient.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 ↗

Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein.Semantic proximity Read ↗

Variably protease-sensitive prionopathy, a unique prion variant with inefficient transmission properties.Semantic proximity Read ↗

Search for a genetic cause of variably protease-sensitive prionopathySemantic proximity Read ↗

A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation.Semantic proximity Read ↗

A novel human disease with abnormal prion protein sensitive to protease.Semantic proximity Read ↗

The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype.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 ↗

Variably protease-sensitive prionopathy: a novel disease of the prion protein.Semantic proximity Read ↗

Prion protein amyloidosis.Semantic proximity Read ↗

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