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Variant Creutzfeldt-Jakob disease(vCJD)

MedGen UID:
138163
Concept ID:
C0376329
Disease or Syndrome
Synonyms: New Variant Creutzfeldt-Jakob Disease; New variant of CJD; Nv-CJD; Variant CJD; Variant Creutzfeldt-Jacob disease
SNOMED CT: Variant Creutzfeldt-Jakob disease (304603007); vCJD - variant Creutzfeldt-Jakob disease (304603007); Creutzfeldt-Jakob variant disease (304603007); nvCJD - New variant of Creutzfeldt-Jakob disease (304603007)
 
Monarch Initiative: MONDO:0007012
OMIM®: 123400
Orphanet: ORPHA576370

Definition

A rare acquired human prion disease characterized by a progressive, invariably fatal neuropsychiatric disorder resulting from transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual. Patients typically present early psychiatric symptoms (such as depression, anxiety, apathy, withdrawal, and delusions), as well as persistent painful sensory symptoms, ataxia, myoclonus, chorea, or dystonia, and dementia. Brain MRI often shows bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. Neuropathological examination reveals spongiform change and extensive deposition of abnormal prion protein with florid plaques throughout the cerebrum and cerebellum. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVariant Creutzfeldt-Jakob disease

Professional guidelines

PubMed

Lukic A, Mead S, Rudge P, Collinge J
Ann Neurol 2011 Jan;69(1):212; author reply 212-3. doi: 10.1002/ana.22273. PMID: 21280094
Beekes M, Mielke M, Pauli G, Baier M, Kurth R
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Baxter T, Black D, Birks D
Lancet 1998 Feb 21;351(9102):600-1. doi: 10.1016/S0140-6736(05)78593-7. PMID: 9492811

Recent clinical studies

Etiology

de Villemeur TB
Handb Clin Neurol 2013;112:1191-3. doi: 10.1016/B978-0-444-52910-7.00040-4. PMID: 23622328
Will RG
Acta Neurobiol Exp (Wars) 2002;62(3):167-73. doi: 10.55782/ane-2002-1435. PMID: 12416394
Bramble MG, Ironside JW
Gut 2002 Jun;50(6):888-90. doi: 10.1136/gut.50.6.888. PMID: 12010896Free PMC Article
Painter MJ
J Infect 2000 Sep;41(2):117-24. doi: 10.1053/jinf.2000.0703. PMID: 11023754
Collinge J
Lancet 1999 Jul 24;354(9175):317-23. doi: 10.1016/S0140-6736(99)05128-4. PMID: 10440324

Diagnosis

Cullinane PW, Wrigley S, Bezerra Parmera J, Valerio F, Millner TO, Shaw K, De Pablo-Fernandez E, Warner TT, Jaunmuktane Z
Pract Neurol 2024 May 29;24(3):188-199. doi: 10.1136/pn-2023-003988. PMID: 38124186
Wang H, Rhoads DD, Appleby BS
Curr Opin Infect Dis 2019 Jun;32(3):272-276. doi: 10.1097/QCO.0000000000000552. PMID: 31008724
Brandel JP, Knight R
Handb Clin Neurol 2018;153:191-205. doi: 10.1016/B978-0-444-63945-5.00011-8. PMID: 29887136
Ironside JW, Ritchie DL, Head MW
Handb Clin Neurol 2017;145:393-403. doi: 10.1016/B978-0-12-802395-2.00028-6. PMID: 28987186
de Villemeur TB
Handb Clin Neurol 2013;112:1191-3. doi: 10.1016/B978-0-444-52910-7.00040-4. PMID: 23622328

Therapy

Brandel JP, Knight R
Handb Clin Neurol 2018;153:191-205. doi: 10.1016/B978-0-444-63945-5.00011-8. PMID: 29887136
Ironside JW
Haemophilia 2010 Jul;16 Suppl 5:175-80. doi: 10.1111/j.1365-2516.2010.02317.x. PMID: 20590878
Sakaguchi S, Ishibashi D, Matsuda H
Expert Opin Ther Pat 2009 Jul;19(7):907-17. doi: 10.1517/13543770902988530. PMID: 19514955
Weiss RA
Curr Top Microbiol Immunol 2003;278:47-71. doi: 10.1007/978-3-642-55541-1_3. PMID: 12934941
Bramble MG, Ironside JW
Gut 2002 Jun;50(6):888-90. doi: 10.1136/gut.50.6.888. PMID: 12010896Free PMC Article

Prognosis

Mathews JD
Philos Trans R Soc Lond B Biol Sci 2008 Nov 27;363(1510):3679-84. doi: 10.1098/rstb.2008.0085. PMID: 18672465Free PMC Article
Molesworth AM, Andrews NJ
Euro Surveill 2006 Jan 26;11(1):E060126.4. doi: 10.2807/esw.11.04.02884-en. PMID: 16801715
Will RG
Bull Mem Acad R Med Belg 2003;158(5-6):250-6; discussion 256-7. PMID: 15025265
Ward HJ, Head MW, Will RG, Ironside JW
Clin Lab Med 2003 Mar;23(1):87-108. doi: 10.1016/s0272-2712(02)00068-9. PMID: 12733426
Karger R, Kretschmer V
Transfus Apher Sci 2002 Oct;27(2):137-52. doi: 10.1016/s1473-0502(02)00036-8. PMID: 12350049

Clinical prediction guides

Pozzo di Borgo A, Rochette S, Gaussen A, O'Brien SF, Germain M, Renaud C, Lewin A
Transfus Med Rev 2023 Jul;37(3):150747. Epub 2023 Jun 16 doi: 10.1016/j.tmrv.2023.150747. PMID: 37827587
Thackray AM, Lam B, McNulty EE, Nalls AV, Mathiason CK, Magadi SS, Jackson WS, Andréoletti O, Marrero-Winkens C, Schätzl H, Bujdoso R
Brain 2022 Sep 14;145(9):3236-3249. doi: 10.1093/brain/awac144. PMID: 35446941Free PMC Article
Hervé RC, Hedges J, Keevil CW
J Hosp Infect 2021 Apr;110:15-25. Epub 2021 Jan 19 doi: 10.1016/j.jhin.2021.01.005. PMID: 33482297
Mathews JD
Philos Trans R Soc Lond B Biol Sci 2008 Nov 27;363(1510):3679-84. doi: 10.1098/rstb.2008.0085. PMID: 18672465Free PMC Article
Karger R, Kretschmer V
Transfus Apher Sci 2002 Oct;27(2):137-52. doi: 10.1016/s1473-0502(02)00036-8. PMID: 12350049

Recent systematic reviews

Rodriguez-Porcel F, Ciarlariello VB, Dwivedi AK, Lovera L, Da Prat G, Lopez-Castellanos R, Suri R, Laub H, Walker RH, Barsottini O, Pedroso JL, Espay AJ
Tremor Other Hyperkinet Mov (N Y) 2019;9 Epub 2019 Dec 12 doi: 10.7916/tohm.v0.712. PMID: 31871824Free PMC Article
Stewart LA, Rydzewska LH, Keogh GF, Knight RS
Neurology 2008 Apr 8;70(15):1272-81. doi: 10.1212/01.wnl.0000308955.25760.c2. PMID: 18391159
Olsen SB, Sheikh A, Peck D, Darzi A
Surg Endosc 2005 Jun;19(6):747-50. Epub 2005 May 4 doi: 10.1007/s00464-004-9205-2. PMID: 15868249

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