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Disease Profile

Variant Creutzfeldt-Jakob disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Variant Creutzfeldt-Jacob disease; VCJD; Variant CJD;

Categories

Nervous System Diseases

Summary

Variant Creutzfeldt-Jakob disease (vCJD) is a type of Creutzfeldt-Jakob disease (CJD) characterized by early psychiatric symptoms and cognitive decline. All forms of CJD belong to a rare family of progressive neurodegenerative disorders that affect both humans and animals, called prion diseases. The term "prion" refers to abnormal proteins within the brain, called prion proteins. vCJD, described primarily in the United Kingdom and France, accounts for less than 1% of cases of CJD, and tends to affect younger people. It can result when someone is exposed to contaminated products. The infection responsible for the disease in cows (bovine spongiform encephalitis) is believed to be the same one responsible for vCJD in humans.[1][2][3]

Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to gain a better understanding about what causes these variations in the symptoms and course of the disease.[1]There is no specific treatment for CJD or vCJD, so the goal is to make a person as comfortable as possible.[1][2][3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The National Endocrine and Metabolic Diseases Information Service, a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), provides information on this topic. Click on the link to view the information on this topic.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
    • The World Health Organization (WHO) produces guidelines and standards, helps countries to address public health issues, and supports and promotes health research. The WHO has developed a fact sheet on this condition.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Variant Creutzfeldt-Jakob disease. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. Creutzfeldt-Jakob Disease Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 2, 2016; https://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm#264203058.
          2. Joseph V. Campellone. Creutzfeldt-Jakob disease. MedlinePlus. 8/13/2015; https://www.nlm.nih.gov/medlineplus/ency/article/000788.htm.
          3. vCJD (Variant Creutzfeldt-Jakob Disease). National Center for Infectious Diseases: Centers for Disease Control and Prevention (CDC). February 10, 2015; https://www.cdc.gov/prions/vcjd/about.html.