U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Prion disease

MedGen UID:
56445
•Concept ID:
C0162534
•
Disease or Syndrome
Synonyms: Dementia, Transmissible; Dementias, Transmissible; Disorder, Prion-Induced; Disorders, Prion-Induced; Encephalopathies, Spongiform, Transmissible; Encephalopathies, Transmissible Spongiform; Encephalopathy, Transmissible Spongiform; Prion Disease; Prion Diseases; Prion Induced Disorder; Prion Protein Disease; Prion Protein Diseases; Prion-Associated Disorders; Prion-Induced Disorder; Prion-Induced Disorders; Spongiform Encephalopathies, Transmissible; Spongiform Encephalopathy, Transmissible; Transmissible Dementia; Transmissible Dementias; Transmissible Spongiform Encephalopathies; Transmissible Spongiform Encephalopathy
SNOMED CT: Prion disease (20484008); Transmissible spongiform encephalopathy (20484008)
 
Monarch Initiative: MONDO:0005429

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

Rapidly progressive dementias - aetiologies, diagnosis and management.
Hermann P, Zerr I
Nat Rev Neurol 2022 Jun;18(6):363-376. Epub 2022 May 4 doi: 10.1038/s41582-022-00659-0. PMID: 35508635Free PMC Article
Towards a treatment for genetic prion disease: trials and biomarkers.
Vallabh SM, Minikel EV, Schreiber SL, Lander ES
Lancet Neurol 2020 Apr;19(4):361-368. Epub 2020 Mar 18 doi: 10.1016/S1474-4422(19)30403-X. PMID: 32199098
Genetic testing and counseling in the diagnosis and management of young-onset dementias.
Goldman JS
Psychiatr Clin North Am 2015 Jun;38(2):295-308. Epub 2015 Mar 18 doi: 10.1016/j.psc.2015.01.008. PMID: 25998117

Recent clinical studies

Etiology

Rapidly progressive dementias - aetiologies, diagnosis and management.
Hermann P, Zerr I
Nat Rev Neurol 2022 Jun;18(6):363-376. Epub 2022 May 4 doi: 10.1038/s41582-022-00659-0. PMID: 35508635Free PMC Article
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.
Whitechurch BC, Welton JM, Collins SJ, Lawson VA
Adv Neurobiol 2017;15:335-364. doi: 10.1007/978-3-319-57193-5_13. PMID: 28674988
Prion Diseases.
Geschwind MD
Continuum (Minneap Minn) 2015 Dec;21(6 Neuroinfectious Disease):1612-38. doi: 10.1212/CON.0000000000000251. PMID: 26633779Free PMC Article
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

Epilepsy in neurodegenerative diseases.
Neri S, Mastroianni G, Gardella E, Aguglia U, Rubboli G
Epileptic Disord 2022 Apr 1;24(2):249-273. doi: 10.1684/epd.2021.1406. PMID: 35596580
Rapidly progressive dementias - aetiologies, diagnosis and management.
Hermann P, Zerr I
Nat Rev Neurol 2022 Jun;18(6):363-376. Epub 2022 May 4 doi: 10.1038/s41582-022-00659-0. PMID: 35508635Free PMC Article
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.
Geschwind MD
Continuum (Minneap Minn) 2015 Dec;21(6 Neuroinfectious Disease):1612-38. doi: 10.1212/CON.0000000000000251. PMID: 26633779Free PMC Article
Young-onset dementia.
Kuruppu DK, Matthews BR
Semin Neurol 2013 Sep;33(4):365-85. Epub 2013 Nov 14 doi: 10.1055/s-0033-1359320. PMID: 24234358Free PMC Article

Therapy

From structure to clinic: Design of a muscarinic M1 receptor agonist with potential to treatment of Alzheimer's disease.
Brown AJH, Bradley SJ, Marshall FH, Brown GA, Bennett KA, Brown J, Cansfield JE, Cross DM, de Graaf C, Hudson BD, Dwomoh L, Dias JM, Errey JC, Hurrell E, Liptrot J, Mattedi G, Molloy C, Nathan PJ, Okrasa K, Osborne G, Patel JC, Pickworth M, Robertson N, Shahabi S, Bundgaard C, Phillips K, Broad LM, Goonawardena AV, Morairty SR, Browning M, Perini F, Dawson GR, Deakin JFW, Smith RT, Sexton PM, Warneck J, Vinson M, Tasker T, Tehan BG, Teobald B, Christopoulos A, Langmead CJ, Jazayeri A, Cooke RM, Rucktooa P, Congreve MS, Weir M, Tobin AB
Cell 2021 Nov 24;184(24):5886-5901.e22. doi: 10.1016/j.cell.2021.11.001. PMID: 34822784Free 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
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

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
Update on posterior cortical atrophy.
Holden SK, Bettcher BM, Pelak VS
Curr Opin Neurol 2020 Feb;33(1):68-73. doi: 10.1097/WCO.0000000000000767. PMID: 31688098Free PMC Article
Nodding syndrome.
Dowell SF, Sejvar JJ, Riek L, Vandemaele KA, Lamunu M, Kuesel AC, Schmutzhard E, Matuja W, Bunga S, Foltz J, Nutman TB, Winkler AS, Mbonye AK
Emerg Infect Dis 2013;19(9):1374-84. doi: 10.3201/eid1909.130401. PMID: 23965548Free PMC Article
Prion diseases.
Johnson RT
Lancet Neurol 2005 Oct;4(10):635-42. doi: 10.1016/S1474-4422(05)70192-7. PMID: 16168932
Variant Creutzfeldt-Jakob disease.
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

What is strain in neurodegenerative diseases?
Tian Y, Meng L, Zhang Z
Cell Mol Life Sci 2020 Feb;77(4):665-676. Epub 2019 Sep 17 doi: 10.1007/s00018-019-03298-9. PMID: 31531680Free PMC Article
Biochemical Characterization of Prions.
Fiorini M, Bongianni M, Monaco S, Zanusso G
Prog Mol Biol Transl Sci 2017;150:389-407. Epub 2017 Aug 8 doi: 10.1016/bs.pmbts.2017.06.012. PMID: 28838671
Prion disease: experimental models and reality.
Brandner S, Jaunmuktane Z
Acta Neuropathol 2017 Feb;133(2):197-222. Epub 2017 Jan 13 doi: 10.1007/s00401-017-1670-5. PMID: 28084518Free PMC Article
The stress of prion disease.
Mays CE, Soto C
Brain Res 2016 Oct 1;1648(Pt B):553-560. Epub 2016 Apr 6 doi: 10.1016/j.brainres.2016.04.009. PMID: 27060771
Prion diseases.
Johnson RT
Lancet Neurol 2005 Oct;4(10):635-42. doi: 10.1016/S1474-4422(05)70192-7. PMID: 16168932

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
A systematic review comparing the diagnostic value of 14-3-3 protein in the cerebrospinal fluid, RT-QuIC and RT-QuIC on nasal brushing in sporadic Creutzfeldt-Jakob disease.
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
Current evidence on the transmissibility of chronic wasting disease prions to humans-A systematic review.
Waddell L, Greig J, Mascarenhas M, Otten A, Corrin T, Hierlihy K
Transbound Emerg Dis 2018 Feb;65(1):37-49. Epub 2017 Jan 30 doi: 10.1111/tbed.12612. PMID: 28139079
The role of neuroimaging in evaluating patients affected by Creutzfeldt-Jakob disease: a systematic review of the literature.
Caobelli F, Cobelli M, Pizzocaro C, Pavia M, Magnaldi S, Guerra UP
J Neuroimaging 2015 Jan-Feb;25(1):2-13. Epub 2014 Mar 5 doi: 10.1111/jon.12098. PMID: 24593302
Systematic review of therapeutic interventions in human prion disease.
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.
    • 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

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...