Sporadic Creutzfeldt-jakob Disease

Incidence and onset information

— Based on the latest data available SPORADIC CREUTZFELDT-JAKOB DISEASE have a estimated prevalence of 0.1 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Sporadic Creutzfeldt-jakob Disease Is also known as sporadic cjd, creutzfeldt-jakob disease, familial.

Researches and researchers

Doctors, researchs, and experts related to Sporadic Creutzfeldt-jakob Disease extracted from public data.

Sporadic Creutzfeldt-jakob Disease Experts map

Current Researchs and researchers

• ANTWERPEN — Pr Patrick CRAS

  Responsible for diagnostic tests - Investigator of research project - Director of laboratory
  
  

  • Institution/s:
    — Institute Born-Bunge, University of Antwerp - UA
    — University Hospital of Antwerp - UZA
  • Research area/topic::
    

    Mechanisms leading to reduction of amyloid-beta in Creutzfeldt-Jakob Disease and the colocalisation with amyloid.



• ANTWERPEN-EDEGEM — Pr Patrick CRAS

  Responsible for diagnostic tests - Investigator of research project - Director of laboratory
  
  

  • Institution/s:
    — Institute Born-Bunge, University of Antwerp - UA
    — University Hospital of Antwerp - UZA
  • Research area/topic::
    

    Mechanisms leading to reduction of amyloid-beta in Creutzfeldt-Jakob Disease and the colocalisation with amyloid.



• PARIS — Pr Alexandra DURR

  Coordinator of expert centre - Clinical expert - Clinical geneticist - Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Centre de génétique moléculaire et chromosomique, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    — Service de Génétique clinique et Médicale, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
  • Research area/topic::
    

    The issue of prenatal / preimplantation diagnosis in parentage information in neurogenetic and neuromuscular dominant diseases



• PARIS — Pr Danielle SEILHEAN

  Responsible for diagnostic tests - Investigator of research project
  
  

  • Institution/s:
    — Département de Neuropathologie - Pôle des Maladies du Système Nerveux, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
  • Research area/topic::
    

    Neuropathologic phenotype - genotype correlation in Creutzfeldt-Jakob disease



• MILANO — Dr Roberto CHIESA

  Investigator of research project
  
  

  • Institution/s:
    — Dulbecco Telethon Institute, Istituto di Ricerche Farmacologiche "Mario Negri"
  • Research area/topic::
    

    A new exploitation of a tetracationic-porphyrin able to reduce PrPC and to inhibit PrPSc replication: characterization of the mechanism of action and preclinical studies in mouse models of genetic prion disease



• TRENTO — Dr Emiliano BIASINI

  Investigator of research project
  
  

  • Institution/s:
    — Centro Interdipartimentale per la Biologia Integrata, Università di Trento
  • Research area/topic::
    

    Defining the role of the cellular prion protein at the intersection of several neurodegenerative diseases



• LISBOA — Dr Patricia F FAÍSCA

  Investigator of research project
  
  

  • Institution/s:
    — Instituto de Investigação Interdisciplinar da Universidade de Lisboa
  • Research area/topic::
    

    Intermediates states: At the crossroads of pathways to folding and pathways to disease.



• EDINBURGH — Ms Jan MACKENZIE

  Coordinator of research network
  
  

  • Institution/s:
    — Western General Hospital
  • Research area/topic::
    

    EUROCJD surveillance network: the European and allied countries collaborative study group of Creutzfeldt-Jakob diseases



• HOUSTON — Russell LEBOVITZ

  Investigator of research project
  
  

  • Institution/s:
    — Amprion, Inc.
  • Research area/topic::
    

    Development of a biochemical diagnosis for creutzfeldt-jakob disease

Sporadic Creutzfeldt-jakob Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Narcolepsy (HLA-DQB1 06:02) Genotyping. By ARUP Laboratories, Molecular Genetics and Genomics (United States). HLA-DQB1 Specificity 100 % Genes 50 %
Celiac Disease (HLA-DQ2 and HLA-DQ8) Genotyping. By ARUP Laboratories, Molecular Genetics and Genomics (United States). HLA-DQA1, HLA-DQB1 Specificity 50 % Genes 50 %
Celiac disease (HLA-DQ/DR). By CGC Genetics (Portugal). HLA-DQA1, HLA-DQB1 Specificity 50 % Genes 50 %
Lactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8). By CGC Genetics (Portugal). HLA-DQA1, HLA-DQB1, MCM6 Specificity 34 % Genes 50 %
Celiac Disease via Next Generation Sequencing HLA Typing. By PreventionGenetics PreventionGenetics (United States). HLA-DQA1, HLA-DQB1 Specificity 50 % Genes 50 %
Narcolepsy Risk Factor. By Bioscientia GmbH Center for Human Genetics (Germany). HLA-DQB1, HLA-DRB1 Specificity 50 % Genes 50 %
HLA DQ2/DQ8. By Furst Medical Laboratories, FurstNAT (Norway). HLA-DQA1, HLA-DQB1 Specificity 50 % Genes 50 %
Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). HLA-DQA1, HLA-DQB1 Specificity 50 % Genes 50 %

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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