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Creutzfeldt-Jacob og andre prion sykdommer

Sist oppdatert: Sist revidert:
Sist revidert av:
  1. Kim MO1, Geschwind MD.. Clinical update of Jakob-Creutzfeldt disease. Curr Opin Neurol. 2015; Jun;28(3):302-10. : 302-10. pmid: 25923128 PubMed  
  2. Hussein O, Jordan Z, Abd Elazim A, Stino A. Pearls & Oy-sters: Rapid progression of prion disease associated with transverse myelitis: A rare presentation. Neurology. 2020 Apr 14;94(15):e1670-e1672. doi: 10.1212/WNL.0000000000009257. Epub 2020 Mar 12. PMID: 32165448. PubMed  
  3. Badahdah A. Clinical Reasoning: A 57-year-old woman with progressive ataxia and falls. Neurology. 2020 Oct 6;95(14):650-656. PMID: 32753433. PubMed  
  4. Sequeira D, Nihat A, Mok T, Coysh T, Rudge P, Collinge J, Mead S. Prevalence and Treatments of Movement Disorders in Prion Diseases: A Longitudinal Cohort Study. Mov Disord. 2022 Sep;37(9):1893-1903. doi: 10.1002/mds.29152. Epub 2022 Jul 16. PMID: 35841311 PubMed  
  5. Appleby BS, Maddox R, Schonberger LB, Cali I, Hammett T, Cohen M, Belay E. Sporadic Creutzfeldt-Jakob Disease in a Very Young Person. Neurology. 2021 Oct 26;97(17):813-816. doi: 10.1212/WNL.0000000000012737. Epub 2021 Sep 8. PMID: 34497065. PubMed  
  6. 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. Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease. Lancet Neurol. 2021 Mar;20(3):235-246. doi: 10.1016/S1474-4422(20)30477-4. Erratum in: Lancet Neurol. 2021 Apr;20(4):e3. PMID: 33609480. PubMed  
  7. Franko E, Wehner T, Joly O, Lowe J, Porter MC, Kenny J, Thompson A, Rudge P, Collinge J, Mead S. Quantitative EEG parameters correlate with the progression of human prion diseases. J Neurol Neurosurg Psychiatry. 2016 Oct;87(10):1061-7 . pmid:27413165 PubMed  
  8. Yasuda M, Sugiyama A, Hokkoku H, Suichi T, Ito K, Satoh K, Kitamoto T, Kuwabara S. Propagation of Diffusion-Weighted MRI Abnormalities in the Preclinical Stage of Sporadic Creutzfeldt-Jakob Disease. Neurology. 2022 Oct 18;99(16):699-702. doi: 10.1212/WNL.0000000000201221. PMID: 36253132. PubMed  
  9. Narula R, Tinaz S. Creutzfeldt-Jakob Disease. N Engl J Med. 2018 Jan 25;378(4):e7. PMID: 29365304 PubMed  
  10. Vitali P, Maccagnano E, Caverzasi E, Henry RG, Haman A, Torres-Chae C, Johnson DY, Miller BL, Geschwind MD. Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. Neurology. 2011; 76(20): 1711-9. PMID: 21471469 PubMed  
  11. Deissenhammer F. EFNS guidelines on disease specific CSF investigations. Eur J Neurol 2009; 16(6): 760-70. PMID: 19475759 PubMed  
  12. Muayqil T, Gronseth G, Camicioli R. Evidence-based guideline: Diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology 2012; 79: 1499-506. PMID: 22993290 PubMed  
  13. Stoeck K, Sanchez-Juan P, Gawinecka J, Green A, Ladogana A, Pocchiari M, Sanchez-Valle R, Mitrova E, Sklaviadis T, Kulczycki J, Slivarichova D, Saiz A, Calero M, Knight R, Aguzzi A, Laplanche JL, Peoc'h K, Schelzke G, Karch A, van Duijn CM, Zerr I. Cerebrospinal fluid biomarker supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias: a longitudinal multicentre study over 10 years. Brain 2012;135: 3051-61.PMID: 23012332 PubMed  
  14. Parchi P, Capellari S. Prion disease: diagnostic value of cerebrospinal fluid markers. Nat Rev Neurol 2013; 9: 10-1. pmid:23208112 PubMed  
  15. Skillbäck T, Rosén C, Asztely F, Mattsson N, Blennow K, Zetterberg H. Diagnostic performance of cerebrospinal fluid total tau and phosphorylated tau in Creutzfeldt-Jakob disease: results from the Swedish Mortality Registry. JAMA Neurol 2014; 71: 476-83. pmid:24566866 PubMed  
  16. Shir D, Lazar EB, Graff-Radford J, Aksamit AJ, Cutsforth-Gregory JK, Jones DT, Botha H, Ramanan VK, Prusinski C, Porter A, Day GS. Analysis of Clinical Features, Diagnostic Tests, and Biomarkers in Patients With Suspected Creutzfeldt-Jakob Disease, 2014-2021. JAMA Netw Open. 2022 Aug 1;5(8):e2225098. doi: 10.1001/jamanetworkopen.2022.25098. PMID: 35921110 PubMed  
  17. Chang BK, Day GS, Graff-Radford J, McKeon A, Flanagan EP, Algeciras-Schimnich A, Mielke MM, Nguyen A, Jones DT, Toledano M, Kremers WK, Knopman DS, Petersen RC, Li W. Alzheimer's disease cerebrospinal fluid biomarkers differentiate patients with Creutzfeldt-Jakob disease and autoimmune encephalitis. Eur J Neurol. 2022 Oct;29(10):2905-2912. doi: 10.1111/ene.15469. Epub 2022 Jul 5. PMID: 35735602; PMCID: PMC9463096.
  18. Green AJE. RT-QuIC: a new test for sporadic CJD. Pract Neurol. 2019 Feb;19(1):49-55. PMID: 30282760 PubMed  
  19. Halbgebauer S, Steinacker P, Hengge S, Oeckl P, Abu Rumeileh S, Anderl-Straub S, Lombardi J, Von Arnim CAF, Giese A, Ludolph AC, Otto M. CSF levels of SNAP-25 are increased early in Creutzfeldt-Jakob and Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2022 Aug 22:jnnp-2021-328646. doi: 10.1136/jnnp-2021-328646. Epub ahead of print. PMID: 35995553. PubMed  
  20. Edgeworth JA, Farmer M, Sicilia A, Tavares P, Beck J, Campbell T, Lowe J, Mead S, Rudge P, Collinge J, Jackson GS.. Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay.. Lancet 2011; 377(9764): 487-93. PMID: 21295339 PubMed  
  21. Moda F1, Gambetti P, Notari S, Concha-Marambio L, Catania M, Park KW, Maderna E, Suardi S, Haïk S, Brandel JP, Ironside J, Knight R, Tagliavini F, Soto C. Prions in the urine of patients with variant Creutzfeldt-Jakob disease. N Engl J Med 2014; 371: 530-9. pmid:25099577 PubMed  
  22. Geschwind MD. Rapidly Progressive Dementia. Continuum (Minneap Minn) 2016. pmid:27042906 PubMed  
  23. Chitravas N, Jung RS, Kofskey DM, Blevins JE, Gambetti P, Leigh RJ, Cohen ML. Treatable neurological disorders misdiagnosed as Creutzfeldt-Jakob disease. Ann Neurol 2011; 70(3): 437-44. PMID: 21674591 PubMed  
  24. Mead S, Rudge P .. CJD mimics and chameleons. Pract Neurol. 2017 Apr;17(2):113-121 . pmid:28153848 PubMed  
  25. Angus-Leppan H, Rudge P, Mead S, Collinge J, Vincent A. Autoantibodies in sporadic Creutzfeldt-Jakob disease.. JAMA Neurol 2013; 70: 919-22. pmid:23699783 PubMed  
  26. Ironside JW. Variant Creutzfeldt-Jakob disease: an update. Folia Neuropathol 2012; 50: 50-6. pmid:22505363 PubMed  
  27. Ladogana A, Kovacs GG. Genetic Creutzfeldt-Jakob disease.Handb Clin Neurol. 2018;153:219-242. PMID: 29887139 PubMed  
  28. Krasnianski A, Sanchez Juan P, Ponto C, Bartl M, Heinemann U, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I. A proposal of new diagnostic pathway for fatal familial insomnia. J Neurol Neurosurg Psychiatry 2014; 85: 654-9. pmid:24249784 PubMed  
  29. Bizzi A, Pascuzzo R, Blevins J, Grisoli M, Lodi R, Moscatelli MEM, Castelli G, Cohen ML, Schonberger LB, Foutz A, Safar JG, Appleby BS, Gambetti P. Evaluation of a New Criterion for Detecting Prion Disease With Diffusion Magnetic Resonance Imaging. JAMA Neurol. 2020 Jun 1;77(9):1–9. PMID: 32478816; PMCID: PMC7265127.
  • Sigrid Botne Sando, spesialist i nevrologi, dr med
  • Anne Brækhus, spesialist i nevrologi, dr med
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
  • Åse Mygland, spesialist i nevrologi, professor dr med