U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from PubMed

Human prion disease

MedGen UID:
977083
Concept ID:
CN295263
Disease or Syndrome
Synonyms: human prion disease; Transmissible spongiform encephalopathy; transmissible spongiform encephalopathy; TSE
 
Monarch Initiative: MONDO:0018926
Orphanet: ORPHA56970

Definition

A group of rare neurodegenerative diseases characterized by the accumulation of prions, abnormal variants of the cellular prion protein, primarily in brain tissue of affected individuals, as well as massive, rapid neuronal death, and an invariably fatal course. Human prion diseases most often occur sporadically but may also be of genetic origin or infectiously acquired. Irrespective of etiology, they are transmissible to other individuals. [from ORDO]

Professional guidelines

PubMed

Bayazid R, Orru' C, Aslam R, Cohen Y, Silva-Rohwer A, Lee SK, Occhipinti R, Kong Q, Shetty S, Cohen ML, Caughey B, Schonberger LB, Appleby BS, Cali I
Acta Neuropathol 2023 Jul;146(1):121-143. Epub 2023 May 8 doi: 10.1007/s00401-023-02581-1. PMID: 37156880Free PMC Article
Geschwind MD, Murray K
Handb Clin Neurol 2018;153:371-397. doi: 10.1016/B978-0-444-63945-5.00020-9. PMID: 29887146
Appleby BS
CNS Neurol Disord Drug Targets 2009 Nov;8(5):353-62. doi: 10.2174/187152709789541961. PMID: 19702575

Recent clinical studies

Etiology

Jones E, Mead S
Neurobiol Dis 2020 Aug;142:104973. Epub 2020 Jun 18 doi: 10.1016/j.nbd.2020.104973. PMID: 32565065
Knight R
Prog Mol Biol Transl Sci 2017;150:293-318. Epub 2017 Aug 14 doi: 10.1016/bs.pmbts.2017.06.010. PMID: 28838665
Geschwind MD
Continuum (Minneap Minn) 2015 Dec;21(6 Neuroinfectious Disease):1612-38. doi: 10.1212/CON.0000000000000251. PMID: 26633779Free PMC Article
Takada LT, Geschwind MD
Semin Neurol 2013 Sep;33(4):348-56. Epub 2013 Nov 14 doi: 10.1055/s-0033-1359314. PMID: 24234356
Johnson RT
Lancet Neurol 2005 Oct;4(10):635-42. doi: 10.1016/S1474-4422(05)70192-7. PMID: 16168932

Diagnosis

Satoh K
Neurochem Int 2022 May;155:105306. Epub 2022 Feb 15 doi: 10.1016/j.neuint.2022.105306. PMID: 35176437
Knight R
Prog Mol Biol Transl Sci 2020;175:1-18. Epub 2020 Aug 24 doi: 10.1016/bs.pmbts.2020.07.006. PMID: 32958229
Brandel JP, Knight R
Handb Clin Neurol 2018;153:191-205. doi: 10.1016/B978-0-444-63945-5.00011-8. PMID: 29887136
Zerr I, Parchi P
Handb Clin Neurol 2018;153:155-174. doi: 10.1016/B978-0-444-63945-5.00009-X. PMID: 29887134
Geschwind MD
Continuum (Minneap Minn) 2015 Dec;21(6 Neuroinfectious Disease):1612-38. doi: 10.1212/CON.0000000000000251. PMID: 26633779Free PMC Article

Therapy

Mead S, Khalili-Shirazi A, Potter C, Mok T, Nihat A, Hyare H, Canning S, Schmidt C, Campbell T, Darwent L, Muirhead N, Ebsworth N, Hextall P, Wakeling M, Linehan J, Libri V, Williams B, Jaunmuktane Z, Brandner S, Rudge P, Collinge J
Lancet Neurol 2022 Apr;21(4):342-354. doi: 10.1016/S1474-4422(22)00082-5. PMID: 35305340
Brandel JP, Knight R
Handb Clin Neurol 2018;153:191-205. doi: 10.1016/B978-0-444-63945-5.00011-8. PMID: 29887136
Leparc GF
Cancer Control 2015 Jan;22(1):7-15. doi: 10.1177/107327481502200103. PMID: 25504274
Ironside JW
Haemophilia 2010 Jul;16 Suppl 5:175-80. doi: 10.1111/j.1365-2516.2010.02317.x. PMID: 20590878
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

Prognosis

Sánchez-González L, Maddox RA, Lewis LC, Blevins JE, Harker EJ, Appleby BS, Person MK, Schonberger LB, Belay ED, DeBolt C, Lofy KH
JAMA Netw Open 2020 Oct 1;3(10):e2020690. doi: 10.1001/jamanetworkopen.2020.20690. PMID: 33064135Free PMC Article
Baiardi S, Rossi M, Capellari S, Parchi P
Brain Pathol 2019 Mar;29(2):278-300. Epub 2019 Jan 22 doi: 10.1111/bpa.12695. PMID: 30588685Free PMC Article
Bradford BM, Piccardo P, Ironside JW, Mabbott NA
Clin Anat 2014 Sep;27(6):821-32. Epub 2014 Apr 17 doi: 10.1002/ca.22403. PMID: 24740900
Johnson RT
Lancet Neurol 2005 Oct;4(10):635-42. doi: 10.1016/S1474-4422(05)70192-7. PMID: 16168932
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

Clinical prediction guides

De Pedro-Cuesta J, Almazán-Isla J, Tejedor-Romero L, Ruiz-Tovar M, Avellanal F, Rábano A, Calero M, García López FJ; Spanish CJD Surveillance Group
Prion 2021 Dec;15(1):94-106. doi: 10.1080/19336896.2021.1933873. PMID: 34120571Free PMC Article
Cheng L, Quek C, Li X, Bellingham SA, Ellett LJ, Shambrook M, Zafar S, Zerr I, Lawson VA, Hill AF
Commun Biol 2021 Mar 25;4(1):411. doi: 10.1038/s42003-021-01868-x. PMID: 33767334Free PMC Article
Jones E, Mead S
Neurobiol Dis 2020 Aug;142:104973. Epub 2020 Jun 18 doi: 10.1016/j.nbd.2020.104973. PMID: 32565065
Baiardi S, Rossi M, Capellari S, Parchi P
Brain Pathol 2019 Mar;29(2):278-300. Epub 2019 Jan 22 doi: 10.1111/bpa.12695. PMID: 30588685Free PMC Article
Johnson RT
Lancet Neurol 2005 Oct;4(10):635-42. doi: 10.1016/S1474-4422(05)70192-7. PMID: 16168932

Recent systematic reviews

Behaeghe O, Mangelschots E, De Vil B, Cras P
Acta Neurol Belg 2018 Sep;118(3):395-403. Epub 2018 Aug 10 doi: 10.1007/s13760-018-0995-8. PMID: 30097826
Sharma DK, Boggild M, van Heuven AW, White RP
Neurologist 2017 Mar;22(2):48-53. doi: 10.1097/NRL.0000000000000107. PMID: 28248914
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

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    -