Creutzfeldt–Jakob disease

Not to be confused with Variant Creutzfeldt–Jakob disease.
Creutzfeldt–Jakob disease
Other namesClassic Creutzfeldt–Jakob disease, subacute spongiform encephalopathy, neurocognitive disorder due to prion disease, (historical) spastic pseudosclerosis[1]
Magnetic resonance image of sporadic CJD[2]
Pronunciation
  • UK: /ˌkrɔɪtsfɛlt ˈjækɒb/ KROYTS-felt YAK-ob, US: /- ˈjɑːkoʊb/ -⁠ YAH-kohb[3]
SpecialtyNeurology
Symptoms
  • Early: memory problems, behavioral changes, poor coordination, visual and auditory disturbances[4]
  • Later: dementia, involuntary movements, blindness, deafness, weakness, coma[4]
ComplicationsAspiration pneumonia due to difficulty coughing and swallowing
Usual onsetAround 60[4]
Duration70% die within a year of diagnosis[4]
TypesSporadic (mutation), Familial (heredity), Iatrogenic (acquired), Variant (infection)[4]
CausesPrion[4]
Risk factorsHaving at least one living or deceased ancestor with the disease (in case of familial CJD)
Diagnostic methodBased on symptoms and medical tests after other possible causes are ruled out[4]
Differential diagnosisEncephalitis, chronic meningitis, Huntington's disease, Alzheimer's disease,[4] Sjögren's syndrome[5]
PreventionGene editing of children at risk (for fCJD)
TreatmentUntreatable; supportive care[4]
MedicationVarious experimental treatments, For pain relief: Morphine, Methadone
PrognosisLife expectancy greatly shortened, varies from 3 months to multiple years[4]
Frequency1 per million per year[4]
Deaths131 in the United Kingdom (2020)[6]

Creutzfeldt–Jakob disease (CJD) is an incurable, always fatal neurodegenerative disease belonging to the transmissible spongiform encephalopathy (TSE) group.[4][1] Early symptoms include memory problems, behavioral changes, poor coordination, visual disturbances and auditory disturbances.[4] Later symptoms include dementia, involuntary movements, blindness, deafness, weakness, and coma.[4] About 70% of sufferers die within a year of diagnosis.[4] The name "Creutzfeldt–Jakob disease" was introduced by Walther Spielmeyer in 1922, after the German neurologists Hans Gerhard Creutzfeldt and Alfons Maria Jakob.[7]

CJD is caused by abnormal folding of a protein known as a prion.[8] Infectious prions are misfolded proteins that can cause normally folded proteins to also become misfolded.[4] About 85% of cases of CJD occur for unknown reasons, while about 7.5% of cases are inherited in an autosomal dominant manner.[4][9] Exposure to brain or spinal tissue from an infected person may also result in spread.[4] There is no evidence that sporadic CJD can spread among people via normal contact or blood transfusions,[4] although this is possible in variant Creutzfeldt–Jakob disease.[10][11] Diagnosis involves ruling out other potential causes.[4] An electroencephalogram, spinal tap, or magnetic resonance imaging may support the diagnosis.[4] Another diagnosis technique is the real-time quaking-induced conversion assay, which can detect the disease in early stages.[12]

There is no specific treatment for CJD.[4] Opioids may be used to help with pain, while clonazepam or sodium valproate may help with involuntary movements.[4] CJD affects about one person per million people per year.[4] Onset is typically around 60 years of age.[4] The condition was first described in 1920.[4] It is classified as a type of transmissible spongiform encephalopathy.[13] Inherited CJD accounts for about 10% of prion disease cases.[9] Sporadic CJD is different from bovine spongiform encephalopathy (mad cow disease) and variant Creutzfeldt–Jakob disease (vCJD).[14]

  1. ^ a b "Creutzfeldt–Jakob Disease, Classic (CJD)". CDC. 2 October 2018. Retrieved 21 November 2018.
  2. ^ Cite error: The named reference CJD mimics and chameleons was invoked but never defined (see the help page).
  3. ^ Wells JC (2008), Longman Pronunciation Dictionary (3rd ed.), Longman, ISBN 978-1-4058-8118-0
  4. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z "Creutzfeldt–Jakob Disease Fact Sheet | National Institute of Neurological Disorders and Stroke". NINDS. March 2003. Archived from the original on 4 July 2017. Retrieved 16 July 2017.
  5. ^ Notas K, Papaliagkas V, Spilioti M, Papagiannis I, Nemtsas P, Poulopoulos A, Kouskouras K, Diakogiannis I, Kimiskidis VK (2022). "Primary Sjögren's Syndrome Presenting with Rapidly Progressive Dementia: A Case Report". Current Alzheimer Research. 19 (6): 479–484. doi:10.2174/1567205019666220627094707. PMID 35761497.
  6. ^ "Creutzfeldt–Jakob disease". 23 October 2017.
  7. ^ Creutzfeldt–Jakob disease @ Who Named It
  8. ^ "Creutzfeldt–Jakob Disease, Classic (CJD) | Prion Diseases | CDC". www.cdc.gov. 1 February 2019. Retrieved 17 June 2019. Classic CJD is a human prion disease
  9. ^ a b Manix M, Kalakoti P, Henry M, Thakur J, Menger R, Guthikonda B, Nanda A (2015-11-01). "Creutzfeldt–Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy". Neurosurgical Focus. 39 (5): E2. doi:10.3171/2015.8.FOCUS15328. ISSN 1092-0684. PMID 26646926.
  10. ^ Brandel J, Vlaciu M, Culeux A, Belondrade M, Grznarova K, Plu I, Levasseur M, Haik S (July 2, 2020). "Variant Creutzfeldt–Jakob Disease Diagnosed 7.5 Years after Occupational Exposure". New England Journal of Medicine. 383 (1): 83–85. doi:10.1056/NEJMc2000687. PMID 32609989.
  11. ^ "Transfusion Handbook/ 5.4: Variant Creutzfeldt–Jakob disease (vCJD)". Joint United Kingdom (UK) Blood Transfusion and Tissue Transplantation Services Professional Advisory Committee. 4 February 2014. Archived from the original on 2017-03-05. Retrieved 29 July 2021.
  12. ^ Green AJ (February 2019). "RT-QuIC: a new test for sporadic CJD". Practical Neurology. 19 (1): 49–55. doi:10.1136/practneurol-2018-001935. ISSN 1474-7766. PMC 6580883. PMID 30282760.
  13. ^ "About CJD | Creutzfeldt–Jakob Disease, Classic (CJD) | Prion Disease". CDC. 11 February 2015. Archived from the original on 8 August 2017. Retrieved 16 July 2017.
  14. ^ "Creutzfeldt–Jakob Disease, Classic (CJD) | Prion Diseases". CDC. 6 February 2015. Archived from the original on 18 July 2017. Retrieved 16 July 2017.
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