II. Epidemiology

  1. Incidence of sporadic CJD: One case per million
  2. Age of onset
    1. CJD Mean age of onset: 68 (range: 55-75 years old)
    2. nvCJD: Young age of onset

III. Causes

  1. Sporadic Creutzfeldt-Jakob Disease
    1. Growth Hormone injections
    2. Corneal grafts
    3. Dural grafts
    4. Neurosurgical equipment
  2. nvCJD
    1. Eating contaminated beef (cattle fed sheep brain)
  3. Sheep CJD (Scrapie)
    1. Only transmitted to humans if passed via cattle
  4. Chronic Wasting Disease (passed by deer and elk)
    1. Broad range of positive cases in United States
      1. Identified in deer and elk in 1967
      2. Identified in deer and elk in 1980's
      3. Identified in Mt Horeb area: 14 per 500 deer
    2. Associated with captive elk on game farm (NE, MO, SD)
      1. Passed to free deer via salt licks, baiting
    3. CWD could theoretically be passed to cattle
    4. Signs in deer
      1. Muscle wasting
      2. Ataxia
      3. Difficulty swallowing Saliva
      4. Confusion
      5. Seizures

IV. Pathophysiology

  1. Transmitted via prion protein infectious agents
    1. Only infectious agent to contain no nucleic acids
  2. Prions cause other proteins to precipitate
    1. Plaques of prion proteins form in brain
    2. Results in Spongiform encephalopathy
    3. Susceptible patients have polymorphism at codon 129
  3. Very difficult to control
    1. Resistant to disinfectants and sterilization
    2. Environmental decay is very slow
      1. Persists in environment despite removing animals
  4. Transmission
    1. Spread by Saliva
    2. Travels via lymph
    3. Spreads to brain via Lymphocytes
    4. Long latent period (from 2 to 40 years)

V. Variants

  1. Creutzfeldt-Jakob Disease (CJD)
  2. New Variant CJD (nvCJD)
  3. Bovine spongiform encephalopathy (Mad Cow Disease)
  4. Chronic Wasting Disease (CWD)

VI. Signs and Symptoms

  1. Personality changes
  2. Ataxia
  3. Cerebellar signs
  4. Myoclonus
  5. Visual loss
  6. Extrapyramidal signs

VII. Diagnostics

  1. EEG
    1. Slow wave background
    2. High voltage spikes
  2. MRI shows Pulvinar sign in nvCJD
    1. Zeider (2000) Lancet 355:1412 [PubMed]
  3. Brain Biopsy
    1. Amyloidosis
  4. Analysis of animal source
    1. Tonsil biopsy for prion protein
    2. CSF Protein analysis

VIII. Prevention of Chronic Wasting Disease

  1. Close deer and elk game farms in endemic areas
  2. Avoid deer and elk meat intake in endemic areas
  3. Do not dress deer in the field
  4. Know how meat is butchered
    1. Does butcher prepare deer or elk and beef?

IX. Course

  1. Rapidly progressive

X. Prognosis

  1. Mortality approaches 100%

XI. Management: Supportive (Only delays decline)

  1. Avoid Alcohol intake
  2. Consider anti-oxidant use
  3. Consider Tetracycline class antibiotics

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Ontology: Creutzfeldt-Jakob disease (C0022336)

Definition (CHV) a rare, incurable and often deadly brain disease
Definition (CHV) a rare, incurable and often deadly brain disease
Definition (CHV) a rare, incurable and often deadly brain disease
Definition (CHV) a rare, incurable and often deadly brain disease
Definition (CHV) a rare, incurable and often deadly brain disease
Definition (CHV) a rare, incurable and often deadly brain disease
Definition (CHV) a rare, incurable and often deadly brain disease
Definition (MEDLINEPLUS)

Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. Symptoms usually start around age 60. Memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to dementia, coma, and death. Most patients die within a year.

The three main categories of CJD are

  • Sporadic CJD, which occurs for no known reason
  • Hereditary CJD, which runs in families
  • Acquired CJD, which occurs from contact with infected tissue, usually during a medical procedure

Cattle can get a disease related to CJD called bovine spongiform encephalopathy (BSE) or "mad cow disease." There is concern that people can get a variant of CJD from eating beef from an infected animal, but there is no direct proof to support this.

NIH: National Institute of Neurological Disorders and Stroke

Definition (NCI) A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.
Definition (MSH) 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))
Concepts Disease or Syndrome (T047)
MSH D007562
ICD9 046.1
ICD10 A81.0 , A81.00
SnomedCT 792004, 79358009, 155061007
English Creutzfeldt Jakob Disease, Creutzfeldt-Jakob Disease, Creutzfeldt-Jakob Syndrome, Jakob Creutzfeldt Disease, Jakob Creutzfeldt Syndrome, Jakob-Creutzfeldt Disease, Jakob-Creutzfeldt Syndrome, Disease, Creutzfeldt-Jakob, Disease, Jakob-Creutzfeldt, Syndrome, Creutzfeldt-Jakob, Syndrome, Jakob-Creutzfeldt, Creutzfeld-Jakob disease, CJD, SPONGIFORM ENCEPHALOPATHY SUBACUTE, Creutzfeldt-Jakob disease, CREUTZFELDT-JAKOB DISEASE, SPONGIFORM ENCEPH SUBACUTE, CJD CREUTZFELDT JAKOB DIS, CREUTZFELDT JAKOB DIS, JAKOB CREUTZFELDT DIS, Creutzfeldt Jakob disease, Jakob-Creutzfeld disease, Creutzfeldt-Jakob disease (diagnosis), Creutzfeldt-Jakob's disease, CJD - Creutzfeld-Jakob di, JCD - Jakob-Creutzfeldt dis, CJ disease, Creutzfeld-Jacob disease, Jacob-Creutzfeld disease, CJD (Creutzfeldt-Jakob Disease), Encephalopathies, Subacute Spongiform, Encephalopathy, Subacute Spongiform, Spongiform Encephalopathies, Subacute, Spongiform Encephalopathy, Subacute, Subacute Spongiform Encephalopathies, Subacute Spongiform Encephalopathy, Jacob Disease, Creutzfeldt, Disease, Creutzfeldt Jacob, Creutzfeldt Jacob Disease, Creutzfeldt-Jakob disease, unspecified, Jakob-Creutzfeldt disease, unspecified, Creutzfeldt-Jakob Syndrome [Disease/Finding], jakob-creutzfeldt disease, jakob-creutzfeldt syndrome, creutzfeldt-jakob syndrome, cjd, creutzfeldt jakob disease, creutzfeldt jakob syndrome, creutzfeldt-jakob disease, CJD (Creutzfeldt Jakob Disease), Creutzfeldt-Jacob Disease, Transmissible virus dementia (disorder), Creutzfeldt-Jakob disease (disorder), Subacute spongiform encephalopathy, Jakob-Creutzfeldt disease, CJD - Creutzfeldt-Jakob disease, JCD - Jakob-Creutzfeldt disease, Jakob-Creutzfeldt disease (disorder), Transmissible virus dementia, CJD (Creutzfeldt Jakob disease), Jakob-Creutzfeldt, pseudosclerosis; spastic (etiology), pseudosclerosis; spastic (manifestation), spastic; pseudosclerosis (etiology), spastic; pseudosclerosis (manifestation), Creutzfeldt-Jakob, Creutzfeldt Jakob Syndrome
Italian Malattia di Creutzfeld-Jacob, Malattia di Creutzfeldt-Jacob, Malattia di Jakob-Creutzfeldt, Malattia di Jacob-Creutzfeld, CJD (malattia di Creutzfeldt-Jakob), Encefalopatia spongiforme subacuta, CJD, Malattia di Creutzfeldt-Jakob, Sindrome di Creutzfeldt-Jakob
Dutch Creutzfeld-Jacob-ziekte, CJD, Jacob-Creutzfeld-ziekte, ziekte van Creutzfeld-Jacob, ziekte van Creutzfeldt-Jakob, pseudosclerose; spastisch, spastisch; pseudosclerose, Ziekte van Creutzfeldt-Jakob, Creutzfeld-Jakob-syndroom, Spongiforme Encefalopathie, subacute
French Maladie de Creutzfeld-Jacob, MCJ, Maladie de Jacob-Creutzfeld, Maladie de Creutzfeld-Jakob, Maladie de CJ, Encéphalopathie spongiforme subaigüe, MALADIE DE CREUTZFELDT-JAKOB, Maladie de Jakob-Creutzfeldt, Encéphalopathie spongiforme subaiguë, Maladie de Creutzfeldt-Jakob, Syndrome de Creutzfeldt-Jakob, MCJ (Maladie de Creutzfeldt-Jakob), Pseudo-sclérose spastique de Jakob, Pseudosclérose spastique de Jakob
German Jakob-Creutzfeldt-Krankheit, Creutzfeld-Jacob-Krankheit, CJD, Creutzfeld-Jakob-Krankheit, CJ Krankheit, Jacob-Creutzfeld-Krankheit, CREUTZFELDT-JAKOB KRANKHEIT, Creutzfeldt-Jakob-Krankheit, Creutzfeldt-Jakob-Syndrom, Jakob-Creutzfeldt-Syndrom, Spongiforme Enzephalopathie, subakute, Enzephalopathie, subakute spongiöse
Portuguese Doença CJ, Doença de Creuzfeldt-Jakob, DCJ, DOENCA DE CREUTZFELD-JAKOB, Doença de Creutzfeldt-Jakob, Encefalopatia Espongiforme Subaguda, Síndrome de Creutzfeldt-Jakob
Spanish ECJ, Enfermedad de CJ, Enfermedad de Creutzfeld-Jakob, Enfermedad de Jakob-Creutzfeldt, demencia virósica transmisible, demencia virósica transmisible (trastorno), encefalopatía espongiforme subaguda, enfermedad de Creutzfeldt - Jakob, enfermedad de Jakob - Creutzfeldt (trastorno), enfermedad de Jakob - Creutzfeldt, Enfermedad de Creutzfeldt-Jakob, Encefalopatía Espongiforme Subaguda, Síndrome de Creutzfeldt-Jakob
Japanese ヤコブ・クロイツフェルト病, クロイツフェルト・ヤコブ病, クロイツフェルトヤコブビョウ, ヤコブクロイツフェルトビョウ, CJD, CJD, クロイツフェルト・ヤコブ症候群, クロイツフェルト・ヤコブ病, Jakob-Creutzfeldt病, クロイツフェルド-ヤコブ病, 痙性仮性硬化症, 痙性偽硬化症, ヤコブ-クロイツフェルト病, クロイツフェルト-ヤコブ症候群, クロイツフェルト・ヤーコブ病, Jakob-Creutzfeldt症候群, クロイツフェルド-ヤコブ症候群, クロイツフェルド・ヤコブ病, クロイツフェルト-ヤコブ病, ヤコブ-クロイツフェルト症候群, Creutzfeldt-Jakob病, Creutzfeldt-Jakob症候群
Swedish Creutzfeldt-Jakobs syndrom
Czech Jakobův-Creutzfeldtův syndrom, CJD, Creutzfeldt -Jakobova nemoc, Jakobova-Creutzfeldtova choroba, CJN, Creutzfeldtova-Jakobova choroba, Creutzfeldtova-Jakobova nemoc, Jakobova-Creutzfeldtova nemoc, subakutní spongiformní encefalopatie
Finnish Creutzfeldt-Jakobin tauti
Korean 크로이츠펠트-야콥병
Polish CJD, Stwardnienie skurczowe rzekome, Choroba Creutzfeldta-Jakoba
Hungarian CJ betegség, CJD, Jacob-Creutzfeld betegség, Jakob-Creutzfeldt betegség, Creutzfeldt-Jakob-kór, Creutzfeldt-Jacob-kór
Norwegian Creutzfeldt-Jakobs sykdom

Ontology: Scrapie (C0036457)

Definition (MSHCZE) svrbivka ovcí a koz; druh přenosné spongiformní encefalopatie vyvolané priony. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (MSH) A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS.
Definition (CSP) fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination, caused by proteinaceous infectious particles called prions.
Concepts Disease or Syndrome (T047)
MSH D012608
SnomedCT 35103004, 340201000009104
English Rida, Scrapie, Scrapie [Disease/Finding], rida, scrapie, Scrapie (disorder)
Swedish Skrapie
Czech scrapie, svědivka, klusavka ovcí, skrapie
Finnish Skrapi
Italian Rida, Scrapie
French Encéphalopathie spongiforme ovine, Tremblante, Scrapie
Polish Scrapie, Drżączka porażenna owiec
Japanese スクレイピー, スクラピー, スクレピー
Norwegian Skrapesyke, Overførbar spongiform encefalopati hos sau og geit
Spanish scrapie, scrapie (trastorno), Rida, Scrapie
German Rida, Scrapie, Traberkrankheit
Dutch Scrapie
Portuguese Rida, Scrapie