Creutzfeldt-Jakob [CJ] disease

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Introduction

Creutzfeldt-Jakob [CJ] disease is a subacute spongiform encephalopathy & a rare form of a dementia associated with protease-resistant isoform(s) of prion protein.

Etiology

Epidemiology

  • uncommon disorder: incidence is 0.5-1.5/million
    • incidence 2007-2020 is 1.5-1.6/million[26]
  • most common human prion disease
  • peak incidence of CJ occurs between 50-75 years of age
    • new variant form occurs in younger patients (mean age 29)
  • 90% of cases are sporadic & 10% are familial
  • iatrogenic cases are rare
  • no seasonal distribution

Pathology

(also see scrapie)

Genetics

Clinical manifestations

* frequency of sign/symptoms in parentheses [from ref 6]

Laboratory

Diagnostic procedures

Radiology

* MRI images[22]

Differential diagnosis

Management

More general terms

More specific terms

Additional terms

References

  1. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 144
  2. Harrison's Principles of Internal Medicine, 13th ed., Companion Handbook, Isselbacher et al (eds), McGraw-Hill Inc. NY 1995, pg 721
  3. Jump up to: 3.0 3.1 3.2 Journal Watch 21(18):147, 2001 Korth C et al Acridine and phenothiazine derivatives as pharmacotherapeutics for prion disease. Proc Natl Acad Sci USA 98:9836, 2001 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11504948
  4. Jump up to: 4.0 4.1 4.2 4.3 4.4 4.5 Journal Watch 21(18):147, 2001 Peretz D et al Antibodies inhibit prion propagation and clear cell cultures of prion infectivity. Nature 412:739, 2001 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11507642
  5. UCLA Intensive Course in Geriatric Medicine & Board Review, Marina Del Ray, CA, Sept 12-15, 2001
  6. Johnson RT & Gibbs CT Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. N Engl J Med. 1998 Dec 31;339(27):1994-2004. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9869672
  7. Jump up to: 7.0 7.1 Geriatrics Review Syllabus, American Geriatrics Society, 5th edition, 2002-2004
  8. Jump up to: 8.0 8.1 Journal Watch 23(24):195, 2003 Glatsel M et al, Extraneural pathologic prion protein in sporadic Creutzfeldt- Jakob disease. N Engl J Med 349:1812, 2003 PMID: https://www.ncbi.nlm.nih.gov/pubmed/14602879
  9. Jump up to: 9.0 9.1 Journal Watch 24(4):32, 2004 MMWR Morb Mortal Wkly Rep 52:180, 2004 http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5253a2.htm
  10. Jump up to: 10.0 10.1 Sanchez-Juan P et al, CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease. Neurology 2006, 67:637 PMID: https://www.ncbi.nlm.nih.gov/pubmed/16924018
    Collins SJ et al, Determinants of diagnostice investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease Brain 2006, 129:2278 PMID: https://www.ncbi.nlm.nih.gov/pubmed/16816392
    Cali I et al, Classification of sporadic Creutzfeldt-Jakob disease revisited. Brain 2006, 129:2266 PMID: https://www.ncbi.nlm.nih.gov/pubmed/16923954
  11. Jump up to: 11.0 11.1 11.2 Wroe SJ et al, Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: A case report. Lancet 2006, 368:2061 PMID: https://www.ncbi.nlm.nih.gov/pubmed/17161728
    Gregori L et al, Reduction in infectivity of endogenous transmissible spongiform encephalopathies present in blood by adsorption to selective affinity resins. Lancet 2006, 368:2226 PMID: https://www.ncbi.nlm.nih.gov/pubmed/17189034
  12. Jump up to: 12.0 12.1 UniProt http://www.uniprot.org/uniprot/P01034.html
  13. Jump up to: 13.0 13.1 13.2 13.3 Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 2009, 2012, 2015, 2018, 2021.
  14. Jump up to: 14.0 14.1 Atarashi R et al. Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med 2011 Feb; 17:175 PMID: https://www.ncbi.nlm.nih.gov/pubmed/21278748
  15. Jump up to: 15.0 15.1 Chitravas N et al. Treatable neurological disorders misdiagnosed as Creutzfeldt- Jakob disease. Ann Neurology 2011 14 Jun PMID: https://www.ncbi.nlm.nih.gov/pubmed/21674591
  16. Jump up to: 16.0 16.1 Muayqil T et al. Evidence-based guideline: Diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology 2012 Oct 2; 79:1499 PMID: https://www.ncbi.nlm.nih.gov/pubmed/22993290
  17. Gao C, Shi Q, Tian C et al The epidemiological, clinical, and laboratory features of sporadic Creutzfeldt-Jakob disease patients in China: surveillance data from 2006 to 2010. PLoS One. 2011;6(8):e24231 PMID: https://www.ncbi.nlm.nih.gov/pubmed/21904617
  18. Jump up to: 18.0 18.1 Geschwind MD et al Quinacrine treatment trial for sporadic Creutzfeldt-Jakob disease. Neurology. 2013 Dec 3;81(23):2015-23 PMID: https://www.ncbi.nlm.nih.gov/pubmed/24122181
  19. Jump up to: 19.0 19.1 Haik S et al. Doxycycline in Creutzfeldt-Jakob disease: A phase 2, randomised, double-blind, placebo-controlled trial. Lancet Neurol 2014 Feb; 13:150 PMID: https://www.ncbi.nlm.nih.gov/pubmed/24411709
  20. Ironside JW. Variant Creutzfeldt-Jakob disease: an update. Folia Neuropathol. 2012;50(1):50-6. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/22505363
  21. Lee J, Hyeon JW, Kim SY, Hwang KJ, Ju YR, Ryou C. Review: Laboratory diagnosis and surveillance of Creutzfeldt- Jakob disease. J Med Virol. 2015 Jan;87(1):175-86. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24978677
  22. Jump up to: 22.0 22.1 22.2 22.3 22.4 Narula R, Tinaz S. Creutzfeldt-Jakob Disease. N Engl J Med 2018; 378:e7. Jan 25, 2018 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/29365304 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMicm1710121
  23. Kim MO, Geschwind MD. Clinical update of Jakob-Creutzfeldt disease. Curr Opin Neurol. 2015 Jun;28(3):302-10. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/25923128
  24. Jump up to: 24.0 24.1 Shir D, Lazar EB, Graff-Radford J et al Analysis of Clinical Features, Diagnostic Tests, and Biomarkers in Patients With Suspected Creutzfeldt-Jakob Disease, 2014-2021. JAMA Netw Open. 2022;5(8):e2225098. Aug 3. PMID: https://www.ncbi.nlm.nih.gov/pubmed/35921110 Free article https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2794883
  25. Jump up to: 25.0 25.1 25.2 Schmitz M, Silva Correia S, Hermann P et al Detection of Prion Protein Seeding Activity in Tear Fluids N Engl J Med 2023. May 11;388(19):1816-1817 PMID: https://www.ncbi.nlm.nih.gov/pubmed/37163630 https://www.nejm.org/doi/pdf/10.1056/NEJMc2214647
  26. Jump up to: 26.0 26.1 26.2 Crane MA, Nair-Desai S, Gemmill A et al Change in Epidemiology of Creutzfeldt-Jakob Disease in the US, 2007-2020. JAMA Neurol. Published online December 11, 2023. PMID: https://www.ncbi.nlm.nih.gov/pubmed/38079182 PMCID: PMC10714279 (available on 2024-12-11) https://jamanetwork.com/journals/jamaneurology/fullarticle/2812784
  27. Uttley L, Carroll C, Wong R, Hilton DA, Stevenson M. Creutzfeldt-Jakob disease: a systematic review of global incidence, prevalence, infectivity, and incubation. Lancet Infect Dis. 2020 Jan;20(1):e2-e10. PMID: https://www.ncbi.nlm.nih.gov/pubmed/31876504 Free article. https://www.thelancet.com/journals/laninf/article/PIIS1473-3099(19)30615-2/abstract
  28. Jump up to: 28.0 28.1 Wurm R et al Mood Alterations in the Prodromal Phase of Sporadic Creutzfeldt-Jakob Disease. JAMA Neurol. Published online December 30, 2024. Not yet indexed in PubMed https://jamanetwork.com/journals/jamaneurology/fullarticle/2828525
  29. Centers for Disease Control & Prevention (CDC) Creutzfeldt-Jacob Disease (CJD) CJD Diagnostic Criteria https://www.cdc.gov/creutzfeldt-jakob/hcp/clinical-overview/diagnosis.html
  30. NINDS Creutzfeldt-Jakob Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Creutzfeldt-Jakob-Disease-Information-Page
    Creutzfeldt-Jakob Disease Fact Sheet https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Creutzfeldt-Jakob-Disease-Fact-Sheet

Patient information

Creutzfeldt-Jakob disease patient information

Database