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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

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
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

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
Genetics of Synucleinopathies.
Nussbaum RL
Cold Spring Harb Perspect Med 2018 Jun 1;8(6) doi: 10.1101/cshperspect.a024109. PMID: 28213435Free PMC Article
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

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: 34822784
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

Prion disease modelled in Drosophila.
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
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
The neuropathology of the adult cerebellum.
Koeppen AH
Handb Clin Neurol 2018;154:129-149. doi: 10.1016/B978-0-444-63956-1.00008-4. PMID: 29903436Free PMC Article
Prion diseases.
Johnson RT
Lancet Neurol 2005 Oct;4(10):635-42. doi: 10.1016/S1474-4422(05)70192-7. PMID: 16168932

Clinical prediction guides

Prion disease modelled in Drosophila.
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
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: 31531680
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
Hashimoto encephalopathy: literature review.
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

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
Movement Disorders in Prionopathies: A Systematic Review.
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
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
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
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

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