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

Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.

Neurogenetics - 1 Oct 2020

Melis Marta, Molari Andrea, Floris Gianluca, Vascellari Sarah, Balestrino Luisa, Ladogana Anna, Poleggi Anna, Parchi Piero, Cossu Giovanni, Melis Maurizio, Orrù Sandro, Defazio Giovanni

Abstract excerpt

In genetic prion diseases (gPrD), five genetic variants (E200K, V210I, V180I, P102L, and D178N) are responsible for about 85% of cases. The R208H is one of the several additional rare mutations and to date, only 16 cases carrying this mutation have been reported worldwide. To describe the phenotypic features of 5 affected patients belonging to apparently unrelated Sardinian (Italian) families with R208H gPrD, and...

Read the complete abstract on PubMed

Topics

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

Share to Cluster Analysis
Share to Creutzfeldt-Jakob Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Founder Effect

Share to Haplotypes

Share to High-Throughput Nucleotide Sequencing

Share to Prion Proteins

Source

Identifiers

PMID: 32458274
DOI: 10.1007/s10048-020-00618-1

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

Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.PMID 32458274Read ↗

Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome.Semantic proximity Read ↗

A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.Semantic proximity Read ↗

Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients.Semantic proximity Read ↗

Hereditary form of prion disease in Poland.Semantic proximity Read ↗

Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation).Semantic proximity Read ↗

Familial Creutzfeldt–Jakob DiseaseSemantic proximity Read ↗

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.Semantic proximity Read ↗

Analysis of PRNP gene codon 129 polymorphism in the Greek population.Semantic proximity Read ↗

Codon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt-Jakob disease, and the search for new mutations in PRNP gene.Semantic proximity Read ↗

[Gerstmann-Sträussler disease: a familial case with common PRNP mutation and atypical features].Semantic proximity Read ↗

Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.Semantic proximity Read ↗

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