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

A case report of sporadic Creutzfeldt-Jakob disease presenting with progressive opsoclonus-myoclonus-ataxia-Plus (OMAS-Plus) phenotype.

Prion - 1 Dec 2026

Hulej Richard, Skáčik Pavol, Žáková Dana, Koprušáková-Turčanová Monika, Grofik Milan, Kurča Egon

Abstract excerpt

BACKGROUND: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive prion disorder whose heterogeneous manifestations may overlap with potentially treatable neurological conditions. We report an atypical sCJD phenotype dominated by progressive dysarthria and an opsoclonus-myoclonus-ataxia-plus (OMAS-plus) phenotype, highlighting the diagnostic pitfalls relative to treatable mimics. CASE PRESENTATION: A...

Read the complete abstract on PubMed

Topics

Humans
Creutzfeldt-Jakob Syndrome
Male
Middle Aged
Phenotype
Opsoclonus-Myoclonus Syndrome

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

Prions

Source

Open in PubMed Open full text

Identifiers

PMID: 42768708
DOI: 10.1080/19336896.2026.2729488
PMCID: PMC13613918

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 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

A case report of sporadic Creutzfeldt-Jakob disease presenting with progressive opsoclonus-myoclonus-ataxia-Plus (OMAS-Plus) phenotype.PMID 42768708Read ↗

Sporadic Creutzfeldt-Jakob disease in adults over 80 years: a 10-year review of United Kingdom surveillance.Semantic proximity Read ↗

Atypical presentation of probable Creutzfeldt-Jakob disease associated with anti-Zic4 antibody: Literature review of neuronal antibodies in Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Creutzfeldt-Jakob Disease with Initial Typical Parkinsonism Precipitated by COVID-19? A Case ReportSemantic proximity Read ↗

Movement Disorders in Prionopathies: A Systematic Review.Semantic proximity Read ↗

M232R Familial Creutzfeldt-Jacob Disease Challenging to Diagnose Due to the Absence of Characteristic Laboratory Findings.Semantic proximity Read ↗

Blindness Revealing the First Probable Case of Sporadic Creutzfeldt-Jakob Disease in Mauritania: A Case ReportSemantic proximity Read ↗

A Unique Case of Genetic Creutzfeldt-Jakob Disease (E200K Mutation) with CSF-restricted Anti Myelin Oligodendrocyte Glycoprotein Antibody.Semantic proximity Read ↗

The advances in the early and accurate diagnosis of Creutzfeldt-Jakob disease and other prion diseases: where are we today?Semantic proximity Read ↗

The Phenotypic Spectrum of Sporadic Creutzfeldt-Jakob Disease Cortical Subtype.Semantic proximity Read ↗

Sporadic human prion diseases: molecular insights and diagnosis.Semantic proximity Read ↗

Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Progressive ataxia and orolingual chorea revealing a novel VPS13A variant: a case report of chorea-acanthocytosis without peripheral acanthocytosis with a literature review.Semantic proximity Read ↗

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