NEUROLOGIE PRO PRAXI / Neurol. praxi. 2024;25(2):97-106 / www.neurologiepropraxi.cz 106 HLAVNÍ TÉMA Rastúci význam genetiky a koncept genetického testovania v oblasti Alzheimerovej choroby a príbuzných demencií. Skúsenosti z jedného centra 706. doi:10.1038/349704a0. 11. Goldman JS, Hahn SE, Catania JW, et al. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors [published correction appears in Genet Med. 2011 Aug;13(8):749]. Genet Med. 2011;13(6):597-605. 12. Guerreiro R, Brás J, Hardy J. SnapShot: genetics of Alzheimer’s disease. Cell. 2013;155(4):968-968.e1. doi:10.1016/j. cell.2013.10.037. 13. Herz J, Beffert U. Apolipoprotein E receptors: linking brain development and Alzheimer’s disease. Nat Rev Neurosci. 2000;1(1):51-8. 14. Holstege H, Hulsman M, Charbonnier C, et al. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease. Nat Genet. 2022;54(12):1786-1794. doi:10.1038/s41588-022-01208-7. 15. Hollingworth P, Harold D, Sims R, et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease. Nat Genet. 2011;43(5):429435. doi:10.1038/ng.803. 16. Huang YA, Zhou B, Wernig M, et al. ApoE2, ApoE3, and ApoE4 Differentially Stimulate APP Transcription and Aβ Secretion. Cell. 2017;168(3):427-441.e21. doi:10.1016/j. cell.2016.12.044. 17. Javor J, Ďurmanová V, Párnická Z, et al. Association of CD33 rs3865444:C>A polymorphism with a reduced risk of late-onset Alzheimer’s disease in Slovaks is limited to subjects carrying the APOE ε4 allele. Int J Immunogenet. 2020;47(5):397405. doi:10.1111/iji.12489. 18. Karch CM, Goate AM. Alzheimer’s disease risk genes and mechanisms of disease pathogenesis. Biol Psychiatry. 2015;77(1):43-51. doi:10.1016/j.biopsych.2014.05.006. 19. Lambert JC, Ibrahim-Verbaas CA, Harold D, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease. Nat Genet. 2013;45(12):14521458. doi:10.1038/ng.2802. 20. Liu CC, Kanekiyo T, Xu H, et al. Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. Nat Rev Neurol. 2013;9(2):106-118. doi:10.1038/nrneurol.2012.263. 21. Mansoori N, Tripathi M, Luthra K, et al. MTHFR (677 and 1298) and IL-6-174 G/C genes in pathogenesis of Alzheimer’s and vascular dementia and their epistatic interaction. Neurobiol Aging. 2012;33(5):1003.e1-8. 22. Naj AC, Schellenberg GD; Alzheimer’s Disease Genetics Consortium (ADGC). Genomic variants, genes, and pathways of Alzheimer’s disease: An overview. Am J Med Genet B Neuropsychiatr Genet. 2017;174(1):5-26. doi:10.1002/ajmg.b.32499. 23. Noveir SD, Kerman BE, Xian H, et al. Effect of the ABCA1 agonist CS-6253 on amyloid‑β and lipoprotein metabolism in cynomolgus monkeys. Alzheimers Res Ther. 2022;14(1):87. doi:10.1186/s13195-022-01028-1. 24. Reiman EM. Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study. Nature Communications. 2020;11:667. https://doi.org/10.1038/s41467-019-14279-8. 25. Reitz C, Jun G, Naj A, et al. Variants in the ATP‑binding cassette transporter (ABCA7), apolipoprotein E ε4, and the risk of late‑onset Alzheimer disease in African Americans. JAMA. 2013;309(14):1483-1492. doi:10.1001/jama.2013.2973. 26. Schellenberg GD, Montine TJ. The genetics and neuropathology of Alzheimer’s disease. Acta Neuropathol. 2012;124(3):305-323. doi:10.1007/s00401-012-0996-2. 27. Silvaieh S, König T, Wurm R, et al. Comprehensive genetic screening of early‑onset dementia patients in an Austrian cohort‑suggesting new disease‑contributing genes. Hum Genomics. 2023;17(1):55. Published 2023 Jun 17. doi:10.1186/ s40246-023-00499-z. 28. Strittmatter WJ, Saunders AM, Schmechel D, et al. Apolipoprotein E: high‑avidity binding to beta‑amyloid and increased frequency of type 4 allele in late‑onset familial Alzheimer disease. Proc Natl Acad Sci U S A. 1993;90(5):1977-81. 29. Sutovsky S, Petrovic R, Fischerova M, et al. Allelic Distribution of Genes for Apolipoprotein E and MTHFR in Patients with Alzheimer’s Disease and Their Epistatic Interaction. J Alzheimers, DiS. 2020;77(3):1095-1105. doi:10.3233/JAD-200321. 30. Sutovsky S, Smolek T, Turcani P, et al. Neuropathology and biochemistry of early onset familial Alzheimer’s disease caused by presenilin-1 missense mutation Thr116Asn. J Neural Transm (Vienna). 2018;125(6):965-976. doi:10.1007/ s00702-018-1850-z. 31. Winfree RL, Seto M, Dumitrescu L, et al. TREM2 gene expression associations with Alzheimer’s disease neuropathology are region‑specific: implications for cortical versus subcortical microglia. Acta Neuropathol. 2023;145(6):733-747. doi:10.1007/ s00401-023-02564-2. 32. Zhang MY, Miao L, Li YS, Hu GY. Meta‑analysis of the methylenetetrahydrofolate reductase C677T polymorphism and susceptibility to Alzheimer’s disease. Neurosci Res. 2010;68(2):142-50. PŘEDNÁŠKY Bezpečnost vysoce účinných DMD v léčbě RS – doc. MUDr. Zbyšek Pavelek, Ph.D. Postavení selektivní imunorekonstituce v léčbě relabující RS prof. MUDr. Jan Mareš, Ph.D. Glymfatický systém CNS aneb lekce z neurobiologie na AAN 2022 MUDr. Jana Lízrová Preiningerová, Ph.D. Poruchy chůze ve stáří – MUDr. Hana Brožová, Ph.D. Změny kognice ve stáří: jak poznat, že stárneme normálně, a jak stárnout úspěšně – doc. MUDr. Martin Vyhnálek, Ph.D. Závratě a posturální instabilita ve stáří – MUDr. Jiří Polívka, CSc., MUDr. Pavel Potužník, Ph.D., Ing. Jiří Polívka, Ph.D. ODBORNÝ GARANT: prof. MUDr. Jan Mareš, Ph.D. Neurologická klinika, FN Olomouc POŘADATEL: SOLEN, s. r. o. ZLATÝ PARTNER POČET KREDITŮ 2 Registrace ZDARMA TERMÍN červen 2023 až květen 2024 dostupný na online.solen.cz On-line kurz pro praktické neurology 1 2023 ON LINE KURZ
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