Neurologie pro praxi – 1/2024

www.neurologiepropraxi.cz / Neurol. praxi. 2024;25(1):19-25 / NEUROLOGIE PRO PRAXI 25 HLAVNÍ TÉMA Humánne priónové ochorenia – „state of the art“ 2023 initial MRI reports for suspected CJD patients. J Neurol. 2022;269(8):4452-4458. doi: 10.1007/s00415-022-11087-x. 21. Jones E, Hummerich H, Viré E, et al. Identification of novel risk loci and causal insights for sporadic Creutzfeldt‑Jakob disease: a genome‑wide association study. Lancet Neurol. 2020;19(10):840-848. doi: 10.1016/S1474-4422(20)30273-8. 22. Joshi T, Ahuja N. The Prion Basis of Progressive Neurodegenerative Disorders. Interdiscip Perspect Infect, DiS. 2023;2023:6687264. doi: 10.1155/2023/6687264. 23. Kovacs GG, Budka H. Molecular pathology of human prion diseases. Int J Mol Sci. 2009;10:976-999. doi:10.3390/ ijms10030976. 24. Ladogana A, Kovacs GG. Genetic Creutzfeldt‑Jakob disease. Handb Clin Neurol. 2018;153:219-242. doi: 10.1016/B978-0444-63945-5.00013-1. 25. Liberski PP, Gajos A, Sikorska B, et al. Kuru, the First Human Prion Disease. Viruses. 2019;11(3):232. doi: 10.3390/v11030232. 26. Mead S. Prion disease genetics. Eur J Hum Genet. 2006;14(3):273-81. doi: 10.1038/sj.ejhg.5201544. 27. Mead S, Burnell M, Lowe J, et al. Clinical trial simulations based on genetic stratification and the natural history of a functional outcome measure in Creutzfeldt‑Jakob Disease. JAMA Neurol. 2016;73:447-55. doi: 10.1001/jamaneurol.2015.4885. 28. Mead S, Gandhi S, Beck J, et al. A novel prion disease associated with diarrhea and autonomic neuropathy. N Engl J Med. 2013;369(20):1904-14. doi: 10.1056/NEJMoa1214747. 29. Mead S, Khalili‑Shirazi A, Potter C, et al. Prion protein monoclonal antibody (PRN100) therapy for Creutzfeldt­ ‑Jakob disease: evaluation of a first‑in‑human treatment programme. Lancet Neurol. 2022;21(4):342-354. doi: 10.1016/ S1474-4422(22)00082-5. 30. Mercer RCC, Harris DA. Mechanisms of prion‑induced toxicity. Cell Tissue Res. 2023;392(1):81-96. doi: 10.1007/s00441022-03683-0. 31. Nagoshi K, Sadakane A, Nakamura Y, Yamada M, Mizusawa H. Duration of prion disease is longer in Japan than in other countries. J Epidemiol. 2011;21(4):255-62. doi: 10.2188/ jea.je20100085. 32. Napper S, Schatzl HM. Oral vaccination as a potential strategy to manage chronic wasting disease in wild cervid populations. Front Immunol. 2023;14:1156451. doi: 10.3389/ fimmu.2023.1156451. 33. National Creutzfeldt‑Jakob Disease Research & Surveillance Unit (NCJDRSU) [online]. [cit. 27. 4. 2020]. Dostupné na: https://www.cjd.ed.ac.uk/sites/default/files/criteria_0.pdf. 34. Peden AH, Head MW, Ritchie DL, et al. Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient. Lancet. 2004;364(9433):527-9. doi: 10.1016/S01406736(04)16811-6. 35. Prusiner SB. Novel proteinaceous infectious particles cause scrapie. Science. 1982;216(4542):136-44. doi: 10.1126/ science.6801762. 36. Rhoads DD, Wrona A, Foutz A, et al. Diagnosis of prion diseases by RT‑QuIC results in improved surveillance. Neurology. 2020;95(8):e1017-e1026. doi: 10.1212/WNL.0000000000010086. 37. Rusina R, Fiala J, Holada K, et al. Gerstmann‑Sträussler­ ‑Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt‑Jakob disease: a case report and review of the literature. Neurocase. 2013;19(1):41-53. doi: 10.1080/13554794.2011.654215. 38. Sailer A, Büeler H, Fischer M, et al. No propagation of prions in mice devoid of PrP. Cell. 1994;77(7):967-8. doi: 10.1016/0092-8674(94)90436-7. 39. Schätzl HM, Da Costa M, Taylor L, et al. Prion protein gene variation among primates. J Mol Biol. 1995;245(4):362-74. doi: 10.1006/jmbi.1994.0030. 40. Shim KH, Sharma N, An SSA. Prion therapeutics: Lessons from the past. Prion. 2022;16(1):265-294. doi: 10.1080/19336896.2022.2153551. 41. Tesar A, Matej R, Kukal J, et al. Clinical Variability in P102L Gerstmann‑Sträussler‑Scheinker Syndrome. Ann Neurol. 2019;86(5):643-652. doi: 10.1002/ana.25579. 42. Vallabh SM, Zou D, Pitstick R, et al. Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease. J Virol. 2023;97(2):e0167222. doi: 10.1128/jvi.01672-22. 43. Watson N, Hermann P, Ladogana A, et al. Validation of Revised International Creutzfeldt‑Jakob Disease Surveillance Network Diagnostic Criteria for Sporadic Creutzfeldt­ ‑Jakob Disease. JAMA Netw Open. 2022;5(1):e2146319. doi: 10.1001/jamanetworkopen.2021.46319. 44. Yamaguchi K, Kamatari YO, Ono F, et al. A designer molecular chaperone against transmissible spongiform encephalopathy slows disease progression in mice and macaques. Nat Biomed Eng. 2019;3(3):206-219. doi: 10.1038/ s41551-019-0349-8. PŘEDNÁŠKY  Indukční léčba RS, včasné nasazení vysoce účinné terapie MUDr. Marta Vachová  Co se děje při imunorekonstituci – nové detailní poznatky MUDr. Veronika Tichá, Ph.D.  MR v prognóze a monitoraci aktivity u RS pacientů prof. MUDr. Manuela Vaněčková, Ph.D.  Kdy je čas na imunorekonstituční léčbu? – MUDr. Marta Vachová  TOS – anatomie, klinika, diferenciální diagnostika – MUDr. Tomáš Bauer  TOS – klinické vyšetření, EMG, konzervativní léčba MUDr. Štěpánka Brušáková, MBA ZLATÝ PARTNER POČET KREDITŮ 2 Registrace ZDARMA TERMÍN prosinec 2023 až listopad 2024 dostupný na online.solen.cz On-line kurz pro praktické neurology 2 2023 ON LINE KURZ ODBORNÝ GARANT: MUDr. Marta Vachová POŘADATEL: SOLEN, s. r. o., ve spolupráci s Neurologickým oddělením s RS centrem, Nemocnice Teplice, o. z. – Krajská zdravotní, a. s., Teplice.

RkJQdWJsaXNoZXIy NDA4Mjc=