Creutzfeldt-Jakob Disease

Aka: Creutzfeldt-Jakob Disease, Jakob-Creutzfeldt Disease, Creutzfeldt Jakob Disease, Jakob Creutzfeldt Disease, Sporadic Jakob-Creutzfeldt Disease, Sporadic Creutzfeldt-Jakob Disease, Sporadic CJD, New Variant Creutzfeldt-Jakob Disease, Variant Creutzfeldt-Jakob Disease, Variant CJD, Iatrogenic Creutzfeldt-Jakob Disease, Familial Creutzfeldt-Jakob Disease, Genetic Creutzfeldt-Jakob Disease

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II. Epidemiology

  1. Incidence of Sporadic CJD: Less than one case per million
    1. Sporadic Jakob-Creutzfeldt Disease is the most common Prion Disease
  2. Age of onset: Mean 68 (range: 55-75 years old)

III. Causes: Human CJD

  1. See Prion Disease for Cow vCJD (Bovine Spongiform Encephalopathy, Mad Cow Disease)
  2. Sporadic Creutzfeldt-Jakob Disease (>80% of U.S. cases, all Sporadic CJD)
    1. By far, the most common form of Creutzfeldt-Jakob Disease (and the presentation reviewed on this page)
  3. Genetic Creutzfeldt-Jakob Disease (10-15% of U.S. cases)
    1. Most cases are familial and represented by 20 different mutations in prion-related Protein gene (PRNP)
      1. Most common PRNP Mutation is E200K (Sephardic Jews in Libya and Tunisia, Slovokians)
    2. Presents as rapidly progressive Dementia and Ataxia with onset ages 30 to 55 years old
    3. MRI Findings are similar to that seen in Sporadic Creutzfeldt-Jakob Disease
  4. Acquired (rare, <1% of U.S. CJD cases)
    1. Iatrogenic Creutzfeldt-Jakob Disease Causes
      1. Growth Hormone injections
      2. Corneal grafts
      3. Dural grafts
      4. Neurosurgical equipment
      5. Blood Transfusion (from donor infected with Variant Jakob-Creutzfeldt Disease)
    2. Variant Creutzfeldt-Jakob Disease (vCJD)
      1. Transmission from animals to humans (typically Bovine Spongiform Encephalopathy or BSE)
      2. Peak in UK BSE cases (1988-2005) followed by tens of thousands of UK cases (1994-2009)
        1. Since 2012, vCJD cases have been rare
        2. https://en.wikipedia.org/wiki/United_Kingdom_BSE_outbreak
      3. Onset in much younger cohort than in Sporadic CJD (mean age onset 27 years old)
      4. Almost all cases are due to Homozygous PRNP Mutation (Methionine at codon 129)
      5. Unlike other CJD forms, Prion Protein (PrP-Sc) is also found in lymphoreticular tissue (in addition to CNS)
      6. Presentation
        1. Initial psychiatric prodrome alone for 6 months
        2. Cgnitive disorder
        3. Cerebellar dysfunction and Movement Disorder (e.g. Myoclonus, Chorea)
      7. Diagnostics
        1. EEG, CSF and CSF biomarkers are typically non-diagnostic
          1. EEG will often show non-specific slowing
        2. MRI DWI shows thalamic hyperintensity with pulvinar sign positive in 75% of cases
          1. Pulvinar sign is bilateral hyperintensity of medial and posterior Thalamus
          2. Appears as "double hockey stick sign"
          3. Zeider (2000) Lancet 355:1412 [PubMed]

IV. Pathophysiology: Sporadic CJD

  1. See Prion Disease
  2. Classification of Sporadic CJD is based on 2 factors
    1. Prion gene polymorphism (PRNP) at codon 129 with Methionine (M) or Valine (V)
    2. Prion Protein Size (Type 1 - 21 kDa, Type 2 - 19 kDa)
  3. Presentations of Sporadic CJD vary based on classification (may have more than one variant)
    1. Rapidly progression Dementia with Myoclonus and variable Ataxia (40% of cases): MM1, MV1
    2. Rapidly progressive Ataxia (15% of cases): VV2
    3. Slower progression of Ataxia or Dementia (8% of cases): MV2
    4. Sporadic Fatal Familial Insomnia: MM2-Thalamic

V. Symptoms: Sporadic CJD

  1. Constitutional (early prodromal in one third of patients)
    1. Fatigue
    2. Headache
    3. Malaise
    4. Vertigo
    5. Altered nutritional intake and Unexplained Weight Loss
    6. Altered sleep
  2. Behavioral Changes (early finding in 20-30% or patients)
    1. Agitation and irritability (36% of cases)
    2. Depressed Mood
    3. Anger or agression
    4. Apathy
    5. Personality Change
  3. Memory Loss (40% of patients)
  4. Sensory Changes (9% of patients)
    1. Paresthesias
    2. Pain
  5. Executive Function Disturbance (early finding in 15%, present in 50% of patients overall)
    1. Aphasia
    2. Apraxia
    3. Neglect
    4. Acalculia

VI. Signs: Sporadic CJD

  1. Rapidly progressive Dementia
  2. Ataxia (esp. gait disturbance, and other cerebellar signs)
  3. Myoclonus
  4. Tremor
  5. Extrapyramidal signs
  6. Visual loss, disturbance or oculomotor defects such as Diplopia (7%)

VII. Labs: Sporadic CJD

  1. Brain Biopsy
    1. Amyloidosis
    2. Gliosis
    3. Nerve Cell Loss
    4. Vacuolation (Spongiform change)
    5. Prion Protein - Scrapie (PrP-Sc) deposition
  2. Immunohistochemistry or Western Blot
    1. Protease Resistant Prion Protein - Scrapie (PrP-Sc)
  3. CSF
    1. Typically normal (although CSF Protein may be mildly increased)
    2. CSF biomarkers (14-3-3, D100B, NSE, t-tau) have variable efficacy

VIII. Diagnostics: Sporadic CJD

  1. EEG (later findings)
    1. Slow wave background
    2. High voltage spikes at 1-2 Hz (may be biphasic or triphasic)

IX. Imaging: Sporadic CJD

  1. Brain MRI (diffusion weighted or DWI)
    1. Cortical or deep nuclei gray matter with restricted diffusion
      1. High Test Sensitivity (92-96%) and high Test Specificity (93-94%)
    2. Abnormal Hyperintensity (FLAIR imaging)
      1. Cortical gyri
      2. Caudate
      3. Putamen
      4. Thalamus

X. Resources

  1. CJD Foundation
    1. http://www.cjdfoundation.org

XI. Prognosis: Sporadic CJD

  1. Rapidly progressive neurogenerative condition with short-term mortality approaching 100%
  2. Mean survival: 6 months (90% mortality within 1 year)

XII. References

  1. Belay (2001) Arch Neurol 58:1673-8 [PubMed]
  2. Brown (2000) Neurology 55(8):1075-81 [PubMed]
  3. Drisko (2002) J Am Coll Nutr 21(1):22-5 [PubMed]
  4. Geschwind (2015) Continuum 21(6): 1612-38 +PMID:26633779 [PubMed]

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Related Studies

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ﾌﾞﾋﾞｮｳ, ﾔｺﾌﾞｸﾛｲﾂﾌｪﾙﾄﾋﾞｮｳ, 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
Russian PSEVDOSKLEROZ SPASTICHESKII, GUBKOOBRAZNAIA PODOSTRAIA ENTSEFALOPATIIA, IAKOBA-KREITTSFEL'DTA BOLEZN', KREITTSFEL'DTA-IAKOBA SINDROM, ГУБКООБРАЗНАЯ ПОДОСТРАЯ ЭНЦЕФАЛОПАТИЯ, КРЕЙТЦФЕЛЬДТА-ЯКОБА СИНДРОМ, ПСЕВДОСКЛЕРОЗ СПАСТИЧЕСКИЙ, ЯКОБА-КРЕЙТЦФЕЛЬДТА БОЛЕЗНЬ
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
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: New Variant Creutzfeldt-Jakob Disease (C0376329)

Concepts Disease or Syndrome (T047)
MSH D007562
ICD9 046.11
ICD10 A81.01
SnomedCT 304603007
Dutch variant Creutzfeldt-Jakob-syndroom, Nieuwe variant van de ziekte van Creutzfeld-Jakob, Ziekte van Creutzfeld-Jakob, variant
Italian Variante della malattia di Creutzfeldt-Jakob, Nuova variante della malattia di Creutzfeldt-Jakob, Variante CJD (V-CJD), V-CJD (Variante della malattia di Creutzfeldt-Jakob)
Portuguese Variante de doença de Creutzfeldt-Jakob, Nova Variante da Doença de Creutzfeldt-Jakob
Spanish Variante de la enfermedad de Creutzfeldt-Jakob, nueva variante de enfermedad de Creutzfeldt-Jakob, nueva variante de enfermedad de Creutzfeldt-Jakob (trastorno), Variante Nueva de la Enfermedad de Creutzfeldt-Jakob, variante de enfermedad de Creutzfeldt-Jakob (trastorno), variante de enfermedad de Creutzfeldt-Jakob
English New Variant Creutzfeldt-Jakob Disease, CREUTZFELDT-JAKOB DISEASE, VARIANT, vCJD, CREUTZFELDT JAKOB DIS NEW VARIANT, NEW VARIANT CREUTZFELDT JAKOB DIS, V CJD VARIANT CREUTZFELDT JAKOB DIS, nvCJD-New var Creutzfeld-Jakob, New variant of Creutzfeldt-Jakob disease, New variant Creutzfeldt-Jakob, variant Creutzfeldt-Jakob disease (diagnosis), variant Creutzfeldt-Jakob disease, V-CJD (Variant-Creutzfeldt-Jakob Disease), Varnt Creutzfeldt-Jakob, Variant Creutzfeldt-Jakob Disease, Variant Creutzfeldt Jakob Disease, New Variant Creutzfeldt Jakob Disease, Creutzfeldt Jakob Disease, New Variant, Creutzfeldt-Jakob Disease, New Variant, Creutzfeldt-Jakob Disease, Variant, V CJD (Variant Creutzfeldt Jakob Disease), Creutzfeldt Jakob Disease, Variant, nvCJD - New variant of Creutzfeldt-Jakob disease, Variant Creutzfeldt-Jakob disease (disorder), Variant Creutzfeldt-Jakob disease, vCJD - variant Creutzfeldt-Jakob disease, New variant of Creutzfeldt-Jakob disease (disorder)
Japanese 異型クロイツフェルト・ヤコブ病, ｲｹｲｸﾛｲﾂﾌｪﾙﾄﾔｺﾌﾞﾋﾞｮｳ
French Nouvelle variante de la maladie de Creutzfeldt-Jakob, Variante de la maladie de Creutzfeldt-Jakob, nv-MCJ (nouvelle variante de la Maladie de Creutzfeldt-Jakob ), nv-MCJ, variante-MCJ
German Neue Variante der Creutzfeld-Jakob-Krankheit, CJD-Variante (V-CJD), New Variant Creutzfeldt-Jakob-Krankheit
Czech Varianta Creutzfeldt-Jakobovy choroby, nová varianta Creutzfeldt-Jakobovy nemoci, nová varianta Creutzfeldtovy-Jakobovy nemoci, nová varianta CJN
Hungarian Creutzfeldt-Jakob betegség variáns
Norwegian Creutzfeldt-Jakobs sykdom, ny variant
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Creutzfeldt-Jakob Disease, Familial (C0751254)

Concepts Disease or Syndrome (T047)
MSH D007562
ICD10 A81.09
English CREUTZFELDT-JAKOB DISEASE, FAMILIAL, Creutzfeldt-Jakob Disease, Familial, FAMILIAL CREUTZFELDT JAKOB DIS, CREUTZFELDT JAKOB DIS FAMILIAL, familial Creutzfeldt-Jakob disease (diagnosis), familial Creutzfeldt-Jakob disease, Creutzfeldt Jakob Disease, Familial, Disease, Familial Creutzfeldt-Jakob, Familial Creutzfeldt Jakob Disease, Familial Creutzfeldt-Jakob Disease, Familial Creutzfeldt-Jakob disease, Creutzfeldt-Jakob Diseases, Familial, Familial Creutzfeldt-Jakob Diseases
French Maladie de Creutzfeldt-Jakob familiale
Italian Malattia di Creutzfeldt-Jakob familiare
Czech familiální Jakobův-Creutzfeldtův syndrom
Norwegian Creutzfeldt-Jakobs sykdom med familiær bakgrunn
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: Creutzfeldt-Jakob Disease, Sporadic (C1852467)

Concepts Disease or Syndrome (T047)
MSH C565143
ICD10 A81.09
English CREUTZFELDT-JAKOB DISEASE, SPORADIC, sCJD, sporadic Creutzfeldt-Jakob disease (diagnosis), sporadic Creutzfeldt-Jakob disease, Sporadic Creutzfeldt-Jakob disease, Creutzfeldt-Jakob Disease, Sporadic
Derived from the NIH UMLS (Unified Medical Language System)

Ontology: iatrogenic Creutzfeldt-Jakob disease (C2349757)

Concepts Disease or Syndrome (T047)
ICD10 A81.09
English iatrogenic Creutzfeldt-Jakob disease (diagnosis), iatrogenic Creutzfeldt-Jakob disease, Iatrogenic Creutzfeldt-Jakob disease
Derived from the NIH UMLS (Unified Medical Language System)

Related Topics in Prion Disorders

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