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Acquired prion disease

MedGen UID:
929131
•Concept ID:
C4303462
•
Disease or Syndrome
SNOMED CT: Acquired prion disease (721255002)

Professional guidelines

PubMed

Differential diagnosis with other rapid progressive dementias in human prion diseases.
Geschwind MD, Murray K
Handb Clin Neurol 2018;153:371-397. doi: 10.1016/B978-0-444-63945-5.00020-9. PMID: 29887146
Neuroradiology of human prion diseases, diagnosis and differential diagnosis.
Gaudino S, Gangemi E, Colantonio R, Botto A, Ruberto E, Calandrelli R, Martucci M, Vita MG, Masullo C, Cerase A, Colosimo C
Radiol Med 2017 May;122(5):369-385. Epub 2017 Jan 21 doi: 10.1007/s11547-017-0725-y. PMID: 28110369
Neuropathological and biochemical criteria to identify acquired Creutzfeldt-Jakob disease among presumed sporadic cases.
Kobayashi A, Parchi P, Yamada M, Mohri S, Kitamoto T
Neuropathology 2016 Jun;36(3):305-10. Epub 2015 Dec 15 doi: 10.1111/neup.12270. PMID: 26669818

Recent clinical studies

Etiology

Wide distribution of prion infectivity in the peripheral tissues of vCJD and sCJD patients.
Douet JY, Huor A, Cassard H, Lugan S, Aron N, Arnold M, Vilette D, Torres JM, Ironside JW, Andreoletti O
Acta Neuropathol 2021 Mar;141(3):383-397. Epub 2021 Feb 2 doi: 10.1007/s00401-021-02270-x. PMID: 33532912Free PMC Article
Activation of the unfolded protein response and granulovacuolar degeneration are not common features of human prion pathology.
Wiersma VI, van Hecke W, Scheper W, van Osch MA, Hermsen WJ, Rozemuller AJ, Hoozemans JJ
Acta Neuropathol Commun 2016 Oct 28;4(1):113. doi: 10.1186/s40478-016-0383-7. PMID: 27793194Free PMC Article
Acquired prion disease: iatrogenic CJD, variant CJD, kuru.
Will RG
Br Med Bull 2003;66:255-65. doi: 10.1093/bmb/66.1.255. PMID: 14522863
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.
Mead S, Stumpf MP, Whitfield J, Beck JA, Poulter M, Campbell T, Uphill JB, Goldstein D, Alpers M, Fisher EM, Collinge J
Science 2003 Apr 25;300(5619):640-3. Epub 2003 Apr 10 doi: 10.1126/science.1083320. PMID: 12690204
What went wrong in BSE? From prion disease to public disaster.
Baker HF, Ridley RM
Brain Res Bull 1996;40(4):237-44. doi: 10.1016/0361-9230(96)00162-1. PMID: 8842406

Diagnosis

Contribution of neuropathology to the understanding of human prion disease.
Kovács GG, Kalev O, Budka H
Folia Neuropathol 2004;42 Suppl A:69-76. PMID: 15449461
Molecular genetics of human prion diseases.
Collinge J, Palmer MS
Philos Trans R Soc Lond B Biol Sci 1994 Mar 29;343(1306):371-8. doi: 10.1098/rstb.1994.0031. PMID: 7913754

Therapy

Acquired prion disease: iatrogenic CJD, variant CJD, kuru.
Will RG
Br Med Bull 2003;66:255-65. doi: 10.1093/bmb/66.1.255. PMID: 14522863

Clinical prediction guides

Activation of the unfolded protein response and granulovacuolar degeneration are not common features of human prion pathology.
Wiersma VI, van Hecke W, Scheper W, van Osch MA, Hermsen WJ, Rozemuller AJ, Hoozemans JJ
Acta Neuropathol Commun 2016 Oct 28;4(1):113. doi: 10.1186/s40478-016-0383-7. PMID: 27793194Free PMC Article
Contribution of neuropathology to the understanding of human prion disease.
Kovács GG, Kalev O, Budka H
Folia Neuropathol 2004;42 Suppl A:69-76. PMID: 15449461

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