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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

Verity C, Baker E, Maunder P, Pal S, Winstone AM
Dev Med Child Neurol 2021 Mar;63(3):287-294. Epub 2020 Sep 24 doi: 10.1111/dmcn.14691. PMID: 32970345Free PMC Article
Huang Y, Forshee RA, Keire D, Lee S, Gregori L, Asher DM, Bett C, Niland B, Brubaker SA, Anderson SA, Yang H
Pharmacoepidemiol Drug Saf 2020 May;29(5):575-581. Epub 2020 Mar 5 doi: 10.1002/pds.4982. PMID: 32134162
Axon AT, Beilenhoff U, Bramble MG, Ghosh S, Kruse A, McDonnell GE, Neumann C, Rey JF, Spencer K; Guidelines Committee. European Society of Gastrointestinal Endoscopy (ESGE)
Endoscopy 2001 Dec;33(12):1070-80. doi: 10.1055/s-2001-18937. PMID: 11740649

Recent clinical studies

Etiology

McManus H, Seed CR, Hoad VC, Kiely P, Kaldor JM, Styles CE, Yang H, Law M, Gosbell IB
Vox Sang 2022 Aug;117(8):1016-1026. Epub 2022 May 24 doi: 10.1111/vox.13290. PMID: 35609012Free PMC Article
Marín-Moreno A, Fernández-Borges N, Espinosa JC, Andréoletti O, Torres JM
Prog Mol Biol Transl Sci 2017;150:181-201. Epub 2017 Aug 7 doi: 10.1016/bs.pmbts.2017.06.014. PMID: 28838661
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
Collinge J
Lancet 1999 Jul 24;354(9175):317-23. doi: 10.1016/S0140-6736(99)05128-4. PMID: 10440324

Diagnosis

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
Collinge J
Lancet 1999 Jul 24;354(9175):317-23. doi: 10.1016/S0140-6736(99)05128-4. PMID: 10440324

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
Weiss RA
Curr Top Microbiol Immunol 2003;278:47-71. doi: 10.1007/978-3-642-55541-1_3. PMID: 12934941
Tysnes OB
Eur Arch Otorhinolaryngol 2003 Sep;260(8):410-1. Epub 2003 Apr 29 doi: 10.1007/s00405-003-0608-9. PMID: 12720005
Johnson A
Hosp Med 2002 Feb;63(2):70-1. doi: 10.12968/hosp.2002.63.2.2082. PMID: 11902091

Prognosis

Roettger Y, Du Y, Bacher M, Zerr I, Dodel R, Bach JP
Nat Rev Neurol 2013 Feb;9(2):98-105. Epub 2012 Dec 18 doi: 10.1038/nrneurol.2012.258. PMID: 23247613
Smith PG, Cousens SN, d' Huillard Aignaux JN, Ward HJ, Will RG
Curr Top Microbiol Immunol 2004;284:161-91. doi: 10.1007/978-3-662-08441-0_7. PMID: 15148992
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
Tysnes OB
Eur Arch Otorhinolaryngol 2003 Sep;260(8):410-1. Epub 2003 Apr 29 doi: 10.1007/s00405-003-0608-9. PMID: 12720005
Stewart GE, Ironside JW
Curr Opin Neurol 1998 Jun;11(3):259-62. doi: 10.1097/00019052-199806000-00012. PMID: 9642546

Clinical prediction guides

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
Hueston WD
Prev Vet Med 2013 May 1;109(3-4):179-84. Epub 2013 Jan 1 doi: 10.1016/j.prevetmed.2012.11.023. PMID: 23287715
Smith PG, Cousens SN, d' Huillard Aignaux JN, Ward HJ, Will RG
Curr Top Microbiol Immunol 2004;284:161-91. doi: 10.1007/978-3-662-08441-0_7. PMID: 15148992
Gordon N
Int J Clin Pract 1999 Sep;53(6):456-9. PMID: 10622074
Stewart GE, Ironside JW
Curr Opin Neurol 1998 Jun;11(3):259-62. doi: 10.1097/00019052-199806000-00012. PMID: 9642546

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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