ArticlePrion2021
Genetic Creutzfeldt-Jakob disease shows fatal family insomnia phenotype.
Article in Prion, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Prodromal Sleep Disturbances and Polysomnographic Findings in Patients With Creutzfeldt-Jakob Disease.Brain and behavior · 2025Article
- Supranuclear Vertical Gaze Palsy in Movement Disorders.Neuro-ophthalmology (Aeolus Press) · 2025Review
- Prospective 25-year surveillance of prion diseases in France, 1992 to 2016: a slow waning of epidemics and an increase in observed sporadic forms.Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin · 2023Article
- Creutzfeldt-Jakob disease presenting as Korsakoff syndrome caused by E196A mutation inWorld journal of clinical cases · 2023Article
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a case of genetic Creutzfeldt-Jakob disease (gCJD), which has a clinical phenotype that is highly similar to Fatal Family Insomnia (FFI) and has a triad of Wernicke-Korsakoff syndrome (WKs) at the developmental stage of the disease. The 51-year-old male complained of sleep disorder and imbalance who had visited five different hospitals before diagnosed. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk, and memory disturbances. The disturbances increased during the course of the disease, which led to the death of the patient 18 months after the appearance of the signs. Although the patient show negative in brain magnetic resonance imaging (MRI) and 14-3-3 protein of cerebrospinal fluid (CSF), he was finally diagnosed with gCJD disease by the human prion protein (PRNP) gene mutations.
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