Related Experiment Video

Updated: Jun 16, 2026

Prion Safety Laboratory Swipe Test
06:01

Prion Safety Laboratory Swipe Test

Published on: February 14, 2025

Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever

S A Appel1, J Chapman, E Kahana

  • 1Department of Neurology, The Sagol Neuroscience Center at the Chaim Sheba Medical Center affiliated to the Sackler Faculty of Medicine, Tel-Aviv University, Tel-Hashomer, Israel.

European Journal of Neurology
|February 2, 2010
PubMed
Abstract

Insights

Familial Mediterranean fever (FMF) may shorten the disease duration in Creutzfeldt-Jakob disease (CJD) patients. This suggests pro-inflammatory factors play a role in CJD progression.

Area of Science:

  • Neuroscience
  • Genetics
  • Immunology

Background:

  • Familial Creutzfeldt-Jakob disease (fCJD) clusters in Libyan Jews, a population also with high prevalence of Familial Mediterranean Fever (FMF).
  • Investigating the potential impact of FMF, a pro-inflammatory condition, on the clinical course of CJD.

Observation:

  • A study included 372 CJD patients (236 fCJD, 136 sporadic CJD).
  • Three patients presented with co-morbid FMF and CJD.
  • Genotyping for FMF mutations was performed on 50 CJD patients.

Findings:

  • CJD patients with FMF exhibited an earlier age of onset and significantly shorter disease duration compared to those without FMF.
  • Heterozygote carriers of the FMF mutation did not show significant differences in disease onset or duration.

Implications:

  • The findings suggest that pro-inflammatory conditions like FMF may influence the progression of Creutzfeldt-Jakob disease.
  • This highlights the potential role of inflammation in neurodegenerative disease pathways.

More Related Videos

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Related Concept Videos

Rocky Mountain Spotted Fever01:26

Rocky Mountain Spotted Fever

Rocky Mountain Spotted Fever (RMSF) is a severe tick-borne illness caused by Rickettsia rickettsii, a Gram-negative, coccobacillary bacterium. This pathogen is an obligate intracellular parasite, requiring a host cell for replication. Transmission occurs through the bite of an infected tick. In the United States, the most important vectors are Dermacentor variabilis (American dog tick) and Dermacentor andersoni (Rocky Mountain wood tick), though other tick species may also serve as vectors.
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Cryptococcal Meningitis01:27

Cryptococcal Meningitis

Cryptococcal meningitis is a life-threatening opportunistic infection predominantly associated with HIV/AIDS, accounting for over 100,000 deaths annually worldwide. However, it also affects individuals with other forms of immunosuppression, including those undergoing immunosuppressive therapy, organ transplant recipients, patients with innate immunodeficiencies, and individuals with hematological disorders. The infection is caused mainly by Cryptococcus neoformans and Cryptococcus gattii,...
Encephalitis l: Introduction01:19

Encephalitis l: Introduction

Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Encephalitis ll: Pathophysiology01:26

Encephalitis ll: Pathophysiology

Encephalitis is inflammation of the brain parenchyma caused by direct viral invasion or immune-mediated mechanisms triggered by infections or tumors. Both processes lead to neuronal injury, disrupted neurotransmission, and diverse neurological symptoms, often with overlapping clinical and pathological features.Autoimmune EncephalitisIn autoimmune encephalitis, antibodies target neuronal antigens on cell surfaces, synapses, or within neurons. A key example is anti-NMDAR encephalitis, which can...