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Creutzfeldt-Jakob disease(CJD)

MedGen UID:
7179
•Concept ID:
C0022336
•
Disease or Syndrome
Synonym: 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]

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
Symptomatic treatment, care, and support of CJD patients.
Appleby BS, Yobs DR
Handb Clin Neurol 2018;153:399-408. doi: 10.1016/B978-0-444-63945-5.00021-0. PMID: 29887147
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

MRI abnormalities in Creutzfeldt-Jakob disease and other rapidly progressive dementia.
Manara R, Fragiacomo F, Ladogana A, Vaianella L, Camporese G, Zorzi G, Vicinanza S, Zanusso G, Pocchiari M, Cagnin A
J Neurol 2024 Jan;271(1):300-309. Epub 2023 Sep 12 doi: 10.1007/s00415-023-11962-1. PMID: 37698615Free 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
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.
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
Prion diseases.
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
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

Exploring the Relationship Between Sporadic Creutzfeldt-Jakob Disease and Gut Microbiota Through a Mendelian Randomization Study.
Su T, Lang Y, Ren J, Yin X, Zhang W, Cui L
Mol Neurobiol 2025 Feb;62(2):1945-1959. Epub 2024 Jul 25 doi: 10.1007/s12035-024-04376-1. PMID: 39052184
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
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
Creutzfeldt-Jakob disease.
Weinstein M
Neurol Res 1992 Sep;14(4):355-6. doi: 10.1080/01616412.1992.11740084. PMID: 1360634

Prognosis

Sporadic fatal insomnia.
Del Chicca M, Belli E, Nicoletti V, Bergamin E, Giampietri L, Pascazio A, Maestri Tassoni M, Baldacci F, Siciliano G, Tognoni G
Pract Neurol 2025 Mar 14;25(2):159-163. doi: 10.1136/pn-2024-004301. PMID: 39322409
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.
Weinstein M
Neurol Res 1992 Sep;14(4):355-6. doi: 10.1080/01616412.1992.11740084. PMID: 1360634

Clinical prediction guides

Association of Glymphatic Function With Clinical Characteristics in Patients With Clinical and Asymptomatic Creutzfeldt-Jakob Disease.
Chen Z, Jiang D, Kong Y, Zhang J, Min C, Bi S, Yan S, Ye H, Li J, Wang L, Lu J, Wu L
Neurology 2025 Jan 14;104(1):e210055. Epub 2024 Dec 13 doi: 10.1212/WNL.0000000000210055. PMID: 39671544
Prediction of clinical progression in nervous system diseases: plasma glial fibrillary acidic protein (GFAP).
Zheng X, Yang J, Hou Y, Shi X, Liu K
Eur J Med Res 2024 Jan 12;29(1):51. doi: 10.1186/s40001-023-01631-4. PMID: 38216970Free 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
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

Understanding Creutzfeldt-Jakob disease in Iran: a systematic review of case reports.
Mohebbi A, Motamedaria P, Naderi M, Hassanpour M, Salavatiha Z, Makouei M, Ataei-Pirkooh A
J Int Med Res 2024 May;52(5):3000605241247706. doi: 10.1177/03000605241247706. PMID: 38717041Free 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
Diagnostic Utility of Cerebrospinal Fluid α-Synuclein in Creutzfeldt-Jakob Disease: A Systematic Review and Meta-Analysis.
Kong Y, Chen Z, Wang X, Wang W, Zhang J
J Alzheimers Dis 2022;89(2):493-503. doi: 10.3233/JAD-220425. PMID: 35912746
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

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