Sporadic Creutzfeldt-jakob Disease

Description

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

Clinical Features

Top most frequent phenotypes and symptoms related to Sporadic Creutzfeldt-jakob Disease

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy
  • Hyperreflexia
  • Tremor
  • Hydrocephalus
  • Blindness
  • Myopathy

And another 43 symptoms. If you need more information about this disease we can help you.

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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



Mendelian

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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 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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