U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Creutzfeldt-Jakob disease(CJD)

MedGen UID:
7179
•Concept ID:
C0022336
•
Disease or Syndrome
Synonyms: Creutzfeldt-Jacob disease; Creutzfeldt-Jakob Syndrome
SNOMED CT: CJD - Creutzfeldt-Jakob disease (792004); JCD - Jakob-Creutzfeldt disease (792004); Transmissible virus dementia (792004); Jakob-Creutzfeldt disease (792004); Creutzfeldt-Jakob disease (792004); Subacute spongiform encephalopathy (792004)
 
Related genes: PRNP, HLA-DQB1
 
Monarch Initiative: MONDO:0005357
OMIM®: 123400; 176640

Definition

Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Creutzfeldt-Jakob disease in Orphanet.

Professional guidelines

PubMed

Genetic counseling for prion disease: Updates and best practices.
Goldman JS, Vallabh SM
Genet Med 2022 Oct;24(10):1993-2003. Epub 2022 Jul 12 doi: 10.1016/j.gim.2022.06.003. PMID: 35819418
Neuroradiology of human prion diseases, diagnosis and differential diagnosis.
Gaudino S, Gangemi E, Colantonio R, Botto A, Ruberto E, Calandrelli R, Martucci M, Vita MG, Masullo C, Cerase A, Colosimo C
Radiol Med 2017 May;122(5):369-385. Epub 2017 Jan 21 doi: 10.1007/s11547-017-0725-y. PMID: 28110369
Hashimoto's encephalopathy : epidemiology, pathogenesis and management.
Mocellin R, Walterfang M, Velakoulis D
CNS Drugs 2007;21(10):799-811. doi: 10.2165/00023210-200721100-00002. PMID: 17850170

Recent clinical studies

Etiology

Creutzfeldt-Jakob disease: a systematic review of global incidence, prevalence, infectivity, and incubation.
Uttley L, Carroll C, Wong R, Hilton DA, Stevenson M
Lancet Infect Dis 2020 Jan;20(1):e2-e10. doi: 10.1016/S1473-3099(19)30615-2. PMID: 31876504
Prion Disease.
Baldwin KJ, Correll CM
Semin Neurol 2019 Aug;39(4):428-439. Epub 2019 Sep 18 doi: 10.1055/s-0039-1687841. PMID: 31533183
Prion Diseases.
Tee BL, Longoria Ibarrola EM, Geschwind MD
Neurol Clin 2018 Nov;36(4):865-897. doi: 10.1016/j.ncl.2018.07.005. PMID: 30366560
Creutzfeldt-Jakob disease and ENT.
Sethi N, Kane J, Condon L
J Laryngol Otol 2013 Nov;127(11):1050-5. Epub 2013 Oct 22 doi: 10.1017/S002221511300234X. PMID: 24148284
Creutzfeldt-Jakob disease.
de Villemeur TB
Handb Clin Neurol 2013;112:1191-3. doi: 10.1016/B978-0-444-52910-7.00040-4. PMID: 23622328

Diagnosis

Sporadic Creutzfeldt-Jakob disease.
Salehi P, Clark M, Pinzon J, Patil A
Am J Emerg Med 2022 Feb;52:267.e1-267.e3. Epub 2021 Jul 22 doi: 10.1016/j.ajem.2021.07.038. PMID: 34334283
Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease.
Hermann P, Appleby B, Brandel JP, Caughey B, Collins S, Geschwind MD, Green A, Haïk S, Kovacs GG, Ladogana A, Llorens F, Mead S, Nishida N, Pal S, Parchi P, Pocchiari M, Satoh K, Zanusso G, Zerr I
Lancet Neurol 2021 Mar;20(3):235-246. doi: 10.1016/S1474-4422(20)30477-4. PMID: 33609480Free PMC Article
Creutzfeldt-Jakob Disease.
Le VH
J Am Osteopath Assoc 2019 Jan 1;119(1):63. doi: 10.7556/jaoa.2019.010. PMID: 30615045
Iatrogenic Creutzfeldt-Jakob disease.
Kobayashi A, Kitamoto T, Mizusawa H
Handb Clin Neurol 2018;153:207-218. doi: 10.1016/B978-0-444-63945-5.00012-X. PMID: 29887137
CJD: Understanding Creutzfeldt-Jakob disease.
Vacca VM Jr
Nursing 2016 Mar;46(3):36-42; quiz 42-3. doi: 10.1097/01.NURSE.0000480598.84274.0f. PMID: 26840797

Therapy

Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease.
Hermann P, Appleby B, Brandel JP, Caughey B, Collins S, Geschwind MD, Green A, Haïk S, Kovacs GG, Ladogana A, Llorens F, Mead S, Nishida N, Pal S, Parchi P, Pocchiari M, Satoh K, Zanusso G, Zerr I
Lancet Neurol 2021 Mar;20(3):235-246. doi: 10.1016/S1474-4422(20)30477-4. PMID: 33609480Free PMC Article
Therapies for prion diseases.
Zafar S, Noor A, Zerr I
Handb Clin Neurol 2019;165:47-58. doi: 10.1016/B978-0-444-64012-3.00004-6. PMID: 31727228
Clinical trials.
Mead S, Tagliavini F
Handb Clin Neurol 2018;153:431-444. doi: 10.1016/B978-0-444-63945-5.00024-6. PMID: 29887150
Variant Creutzfeldt-Jakob disease.
Brandel JP, Knight R
Handb Clin Neurol 2018;153:191-205. doi: 10.1016/B978-0-444-63945-5.00011-8. PMID: 29887136
Variant Creutzfeldt-Jakob disease.
Ironside JW
Haemophilia 2010 Jul;16 Suppl 5:175-80. doi: 10.1111/j.1365-2516.2010.02317.x. PMID: 20590878

Prognosis

Creutzfeldt-Jakob Disease Incidence, South Korea, 2001-2019.
Kim YC, Jeong BH
Emerg Infect Dis 2022 Sep;28(9):1863-1866. doi: 10.3201/eid2809.212050. PMID: 35997603Free PMC Article
Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease.
Hermann P, Appleby B, Brandel JP, Caughey B, Collins S, Geschwind MD, Green A, Haïk S, Kovacs GG, Ladogana A, Llorens F, Mead S, Nishida N, Pal S, Parchi P, Pocchiari M, Satoh K, Zanusso G, Zerr I
Lancet Neurol 2021 Mar;20(3):235-246. doi: 10.1016/S1474-4422(20)30477-4. PMID: 33609480Free PMC Article
Creutzfeldt-Jakob disease: a systematic review of global incidence, prevalence, infectivity, and incubation.
Uttley L, Carroll C, Wong R, Hilton DA, Stevenson M
Lancet Infect Dis 2020 Jan;20(1):e2-e10. doi: 10.1016/S1473-3099(19)30615-2. PMID: 31876504
Creutzfeldt-Jakob Disease.
Narula R, Tinaz S
N Engl J Med 2018 Jan 25;378(4):e7. doi: 10.1056/NEJMicm1710121. PMID: 29365304
Creutzfeldt-Jakob disease.
Gençer AG, Pelin Z, Küçükali Cİ, Topçuoğlu OB, Yilmaz N
Psychogeriatrics 2011 Jun;11(2):119-24. doi: 10.1111/j.1479-8301.2011.00361.x. PMID: 21707861

Clinical prediction guides

Creutzfeldt-Jakob disease: a systematic review of global incidence, prevalence, infectivity, and incubation.
Uttley L, Carroll C, Wong R, Hilton DA, Stevenson M
Lancet Infect Dis 2020 Jan;20(1):e2-e10. doi: 10.1016/S1473-3099(19)30615-2. PMID: 31876504
Can Creutzfeldt-Jakob disease unravel the mysteries of Alzheimer?
Kovacs GG
Prion 2016 Sep 2;10(5):369-376. doi: 10.1080/19336896.2016.1228507. PMID: 27649940Free PMC Article
Infections of the cerebellum.
Pruitt AA
Neurol Clin 2014 Nov;32(4):1117-31. Epub 2014 Oct 24 doi: 10.1016/j.ncl.2014.07.009. PMID: 25439297
EEG in Creutzfeldt-Jakob disease.
Wieser HG, Schindler K, Zumsteg D
Clin Neurophysiol 2006 May;117(5):935-51. Epub 2006 Jan 25 doi: 10.1016/j.clinph.2005.12.007. PMID: 16442343
Creutzfeldt--Jakob disease.
Matthews WB
Postgrad Med J 1978 Sep;54(635):591-4. doi: 10.1136/pgmj.54.635.591. PMID: 103082Free PMC Article

Recent systematic reviews

Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.
Matsubayashi T, Sanjo N
Int J Mol Sci 2022 Dec 2;23(23) doi: 10.3390/ijms232315172. PMID: 36499498Free PMC Article
Systematic review of pharmacological management in Creutzfeldt-Jakob disease: no options so far?
Miranda LHL, Oliveira AFPH, Carvalho DM, Souza GMF, Magalhães JGM, Júnior JAC, Lima PTMBQ, Júnior RMA, Filho SPL, Melo HMA
Arq Neuropsiquiatr 2022 Aug;80(8):837-844. Epub 2022 Oct 17 doi: 10.1055/s-0042-1755341. PMID: 36252593Free PMC Article
Tics in patients with encephalitis.
Badenoch J, Searle T, Watson I, Cavanna AE
Neurol Sci 2021 Apr;42(4):1311-1323. Epub 2021 Jan 23 doi: 10.1007/s10072-021-05065-w. PMID: 33486621Free PMC Article
Creutzfeldt-Jakob disease: a systematic review of global incidence, prevalence, infectivity, and incubation.
Uttley L, Carroll C, Wong R, Hilton DA, Stevenson M
Lancet Infect Dis 2020 Jan;20(1):e2-e10. doi: 10.1016/S1473-3099(19)30615-2. PMID: 31876504
Creutzfeldt-Jakob Disease Presenting as Stroke: A Case Report and Systematic Literature Review.
Sharma DK, Boggild M, van Heuven AW, White RP
Neurologist 2017 Mar;22(2):48-53. doi: 10.1097/NRL.0000000000000107. PMID: 28248914

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...