A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))

Data Correlations | 2 studies

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Genes	Score
PRNP	100
HLA-DQB1	81

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Biogroups	Score
MHC class II, beta chain, N-termina…	100
Cell division/GTP binding protein	100
MHC class II, alpha/beta chain, N-t…	98
MHC classes I and II-like antigen r…	97
Immunoglobulin/major histocompatibi…	96
Immunoglobulin C1-set	96

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Individual Studies

Mouse Phenotypes - Canavan's disease Mus musculus |   Mutations/Phenotypic This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni… Source: NextBio Library/Mutation and Phenotypic data

OMIM - Congenital disorder Homo sapiens |   Mutations/Phenotypic This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories. Source: NextBio Library/Mutation and Phenotypic data

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Literature | 5,571 results

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• Variant or sporadic Creutzfeldt-Jakob disease?

  Authors: J-P Brandel, D Galanaud, L Freeman, J L Laplanche, S Haik

  Lancet 2010 Mar 13

• Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report.

  Authors: Stephen J Wroe, Suvankar Pal, Durrenajaf Siddique, Harpreet Hyare, Rebecca Macfarlane, Susan Joiner, Jacqueline M Linehan, Sebastian Brandner, Jonathan D F Wadsworth, Patricia Hewitt,…

  Lancet 2006 Dec 9

Associated Researchers

Thought leaders and organizations working on research involving creutzfeldt-jakob disease.

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• R G Will
• Robert G Will
• Hans A Kretzschmar
• J W Ironside
• Inga Zerr

View All Clinical Trials Sponsors

• Johnson & Johnson Pharmaceutical Research & Development, L.L.C.
• National Institute of Allergy and Infectious Diseases (NIAID)
• National Institute on Aging (NIA)
• Queen's University
• Medical Research Council

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• Kanazawa University Graduate School of Medical Science
• University of Edinburgh
• Georg-August University Goettingen
• Johns Hopkins University School of Medicine
• National Hospital for Neurology and Neurosurgery

Clinical Trials | 18 trials

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• CJD (Creutzfeldt-Jakob Disease) Quinacrine Study

  conditions: Creutzfeldt-Jakob Disease

  interventions: Quinacrine

   

• Double Blind Study of Trp01 in Patients With Alzheimer's Disease

  conditions: Alzheimer's Disease

  interventions: Tryptophan

   

News | 36 stories

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• [Correspondence] Variant or sporadic Creutzfeldt-Jakob disease?

  Lancet. - March 11, 2010

• [Correspondence] Variant or sporadic Creutzfeldt-Jakob disease? Authors' reply

  Lancet. - March 11, 2010

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