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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

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
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
Appleby BS, Yobs DR
Handb Clin Neurol 2018;153:399-408. doi: 10.1016/B978-0-444-63945-5.00021-0. PMID: 29887147

Recent clinical studies

Etiology

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
Baldwin KJ, Correll CM
Semin Neurol 2019 Aug;39(4):428-439. Epub 2019 Sep 18 doi: 10.1055/s-0039-1687841. PMID: 31533183
Mead S, Tagliavini F
Handb Clin Neurol 2018;153:431-444. doi: 10.1016/B978-0-444-63945-5.00024-6. PMID: 29887150
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
Geschwind MD
Continuum (Minneap Minn) 2015 Dec;21(6 Neuroinfectious Disease):1612-38. doi: 10.1212/CON.0000000000000251. PMID: 26633779Free PMC Article

Diagnosis

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
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
Baldwin KJ, Correll CM
Semin Neurol 2019 Aug;39(4):428-439. Epub 2019 Sep 18 doi: 10.1055/s-0039-1687841. PMID: 31533183
Geschwind MD
Continuum (Minneap Minn) 2016 Apr;22(2 Dementia):510-37. doi: 10.1212/CON.0000000000000319. PMID: 27042906Free PMC Article
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

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
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
Mead S, Tagliavini F
Handb Clin Neurol 2018;153:431-444. doi: 10.1016/B978-0-444-63945-5.00024-6. PMID: 29887150
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

Prognosis

Bujdoso R, Smith A, Fleck O, Spiropoulos J, Andréoletti O, Thackray AM
Cell Tissue Res 2023 Apr;392(1):47-62. Epub 2022 Jan 29 doi: 10.1007/s00441-022-03586-0. PMID: 35092497Free PMC Article
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
Holden SK, Bettcher BM, Pelak VS
Curr Opin Neurol 2020 Feb;33(1):68-73. doi: 10.1097/WCO.0000000000000767. PMID: 31688098Free PMC Article
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
Johnson RT
Lancet Neurol 2005 Oct;4(10):635-42. doi: 10.1016/S1474-4422(05)70192-7. PMID: 16168932

Clinical prediction guides

Bujdoso R, Smith A, Fleck O, Spiropoulos J, Andréoletti O, Thackray AM
Cell Tissue Res 2023 Apr;392(1):47-62. Epub 2022 Jan 29 doi: 10.1007/s00441-022-03586-0. PMID: 35092497Free PMC Article
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
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
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
Zhou JY, Xu B, Lopes J, Blamoun J, Li L
Acta Neurol Scand 2017 Mar;135(3):285-290. Epub 2016 Jun 20 doi: 10.1111/ane.12618. PMID: 27324276

Recent systematic reviews

Matsubayashi T, Sanjo N
Int J Mol Sci 2022 Dec 2;23(23) doi: 10.3390/ijms232315172. PMID: 36499498Free PMC Article
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
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
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

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