SLOŽENOST ALZHEIMEROVE BOLESTI - NOVE GRANICE
Ključne reči:
subjektivni kognitivni poremećaj, blagi kognitivni poremećaj, dijagnostički kriterijumi, genetika, fluidni biomarkeri, imunoterapija
Sažetak
Alzheimerova bolest (AB) predstavlja jedan od najznačajnijih izazova na polju neurodegenerativnih bolesti našeg vremena, sa svojom sve većom rasprostranjenošću i nedostatkom kurativnih tretmana, što naglašava hitnu potrebu za inovativnim terapijskim strategijama.
AB je progresivni poremećaj koji karakteriše kognitivni pad, oštećeno svakodnevno funkcionisanje i gubitak samostalnosti. Patologija AB je obeležena akumulacijom amiloidnih beta plakova i neurofibrilarnih tau proteinskih spletova u mozgu, praćeno sa neuroinflamacijom i sinaptičkom disfunkcijom. Genetski faktori, kao što su mutacije u genima za APP, PSEN1 i PSEN2, direktno izazivaju familijarne oblike, dok alel APOE e4, doprinosi samo povećanom riziku za razvoj AB .
Napredak u identifikaciji i validaciji pouzdanih biomarkera iz cerebro-spinalne tečnosti i krvi obećava mnogo za poboljšanje rane dijagnoze, praćenje progresije bolesti i procenu odgovora na lečenje u ne samo u istraživanjima već i u kliničkoj praksi u nastojanju da se ublaži teret ove razorne bolesti. Posebno biomarkeri iz krvi obećavaju da će značajno poboljšati dijagnostičku tačnost i efikasno pojednostaviti procese upućivanja, i postavljanju rane dijagnoze kao i pravovremeni pristup lečenju. Tekući napori koji oblikuju integraciju krvnih biomarkera u različitim kliničkim okruženjima utiru put ka preciznoj medicini u AB. Istraživački napori su usmereni na razvoj terapija koje modifikuju bolest koje ciljaju na osnovne patološke mehanizme AD. Aktuelni transformativni period saznanja o AB predstavlja važan momenat i obećava značajne promene i u kliničkim uslovima u svetlu inovativne imunološke terapije koja menja tok bolesti.
Imajući u vidu potencijalne prepreke koje mogu ometati pristup terapiji AB, i potrebu da se prošire mogućnosti lečenja izvan specijalizovanih centara, biomarkeri iz krvi i CST pružaju atraktivnu opciju za skrining i rano otkrivanje AB i praćenje efikasnosti lečenja. Ovaj pristup bi mogao biti scenario koji se može testirati u vezi sa načinom na koji bi predstojeća klinička ispitivanja mogla da se osmisle, a i kako bi tretmani koji su potvrđeni da su uspešni u lečenju AB mogli da se primenjuje u svakodnevnoj kliničkoj praksi uz široku primenu biomarkera.
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5.Nelson PT, Head E, Schmitt FA, Davis PR, Neltner JH, Jicha GA, et al. Alzheimer’s disease is not “Brain aging”: Neuropathological, genetic, and epidemiological human studies. Acta Neuropathologica. 2011;121(5):571–87. doi:10.1007/s00401-011-0826-y
6.Schneider JA, Nelson PT. Reply: Limbic-predominant age-related TDP-43 encephalopathy (late). Brain. 2019;142(8). doi:10.1093/brain/awz186
7.Nelson PT, Schneider JA, Jicha GA, Duong MT, Wolk DA. When Alzheimer’s is LATE: Why does it matter? Annals of Neurology. 2023; doi:10.1002/ana.26711
8. Nebel RA, Aggarwal NT, Barnes LL, Gallagher A, Goldstein JM, Kantarci K, et al. Understanding the impact of sex and gender in Alzheimer’s disease: A call to action. Alzheimer’s & Dementia. 2018;14(9):1171–83. doi:10.1016/j.jalz.2018.04.008
9. Belloy ME, Le Guen Y, Stewart I, Williams K, Herz J, Sherva R, et al. Role of the X Chromosome in Alzheimer Disease Genetics. JAMA Neurol. 2024 Oct 1; 81(10):1032-1042. doi: 10.1001/jamaneurol.2024.2843.
10. Harada, CN, Natelson Love, MC, & Triebel, K. L. Normal cognitive aging. Clinics in geriatric medicine 2013; 29:737–752.
11. Nestor PJ, Scheltens P, Hodges JR. Advances in the early detection of Alzheimer’s disease. Nat Rev Neurosci. 2004; 5:S34-41.
12. Jessen F, Amariglio RE, Van Boxtel M, et al. A conceptual framework for research on subjective cognitive decline in preclinical Alzheimer’s disease. Alzheimers Dement 2014; 10: 844–52.
13. Slot, R. E. R., Sikkes, S. A. M., Berkhof, J., Brodaty, H., Buckley, R., Cavedo, E et al. Subjective cognitive decline and rates of incident Alzheimer’s disease and non-Alzheimer’s disease dementia. Alzheimers Dement 2019; 15: 456–76.
14. Petersen RC. Mild cognitive impairment as a diagnostic entity. J Intern Med 2004; 256: 183–94.
15.Mitchell A, Beaumont H, Ferguson D, Yadegarfar M, Stubbs B. Risk of dementia and mild cognitive impairment in older people with subjective memory complaints: meta-analysis. Acta Psychiatr Scand 2014; 130: 439–51.
16. Jessen, F., Amariglio, R. E., Buckley, R. F., van der Flier, W. M., Han, Y., Molinuevo, J. et al. The characterisation of subjective cognitive decline. The Lancet Neurology, 2020; 19 : 271–278.
17. Petersen, R. C., Lopez, O., Armstrong, M. J., Getchius, T. S. D., Ganguli, M., Gloss, D.,et al. Practice guideline update summary: mild cognitive impairment: report of the guideline development, dissemination, and implementation subcommittee of the American Academy of Neurology. Neurology. 2018;90:126-135.
18. Dubois, B., Feldman, H. H., Jacova, C., Hampel, H., Molinuevo, J. L., Blennow, K., et al. Advancing research diagnostic criteria for Alzheimer’s disease: the IWG-2 criteria. Lancet Neurol 2014; 13: 614–29.
19. Dubois, B., Hampel, H., Feldman, H. H., Scheltens, P., Aisen, P., Andrieu, S., et al. Preclinical Alzheimer’s disease: definition, natural history, and diagnostic criteria. Alzheimers Dement 2016; 12: 292–323.
20. Crutch SJ, Lehmann M, Schott JM, Rabinovici GD, Rossor MN, Fox NC. Posterior cortical atrophy. Lancet Neurol 2012; 11: 170–178.
21. Crutch SJ, Schott JM, Rabinovici GD, Murray M, Snowden JS, van der Flier WM; Alzheimer’s Association ISTAART Atypical Alzheimer’s Disease and Associated Syndromes Professional Interest Area, et al. Consensus classification of posterior cortical atrophy. AlzheimersDement 13; 870–884, 2017. doi:10.1016/j.jalz.2017.01.014.
22.Villain N, Dubois B. Alzheimer’s disease including focal presentations. Semin Neurol 39: 213–226, 2019. doi:10.1055/s-0039- 1681041.
23. Black SE. Focal cortical atrophy syndromes. Brain Cogn 31; 188– 229, 1996. doi:10.1006/brcg.1996.0042.
24. Gorno-Tempini, M. L., Hillis, A. E., Weintraub, S., Kertesz, A., Mendez, M., Cappa, S. F., et al. Classification of primary progressive aphasia and its variants. Neurology 2011; 76: 1006–1014.
25. Ryan NS, Rossor MN. Correlating familial Alzheimer’s disease gene mutations with clinical phenotype. Biomark Med 2010; 4: 99–112.
26. Storandt M, Head D, Fagan AM, Holtzman DM, Morris JC. Toward a multifactorial model of Alzheimer disease. Neurobiol Aging 2012;33: 2262–2271,. doi:10.1016/j.neurobiolaging.2011.11.029.
27.Villain N, Dubois B. Alzheimer’s disease including focal presentations. Semin Neurol, 2019; 39: 213–226, doi:10.1055/s-0039- 1681041.
28. Vogel J. W., Young A. L., Oxtoby N. P., Smith R., Ossenkoppele R., Strandberg O. T., et al. Four distinct trajectories of tau deposition identified in Alzheimer’s disease. Nat. Med. 2021; 27, 871–881. doi: 10.1038/s41591-021-01309-6.
29. Knopman DS, Petersen RC, Jack CR Jr. A brief history of "Alzheimer disease": Multiple meanings separated by a common name. Neurology. 2019 May 28;92(22):1053-1059. doi: 10.1212/WNL.0000000000007583.
30. Sperling RA, Aisen PS, Beckett LA, Bennett DA, Craft S, Fagan AM, et al., Toward defining the preclinical stages of Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement. 2011 May;7(3):280-92. doi: 10.1016/j.jalz.2011.03.003.
31. Klunk WE, Engler H, Nordberg A, Wang Y, Blomqvist G, Holt DP, et al., Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B. Ann Neurol. 2004 Mar;55(3):306-19. doi: 10.1002/ana.20009.
32.Jack CR Jr, Bennett DA, Blennow K, Carrillo MC, Dunn B, Haeberlein SB, et al.. NIA-AA Research Framework: Toward a biological definition of Alzheimer's disease. Alzheimers Dement. 2018 Apr;14(4):535-562. doi: 10.1016/j.jalz.2018.02.018.
33. Jack CR Jr, Bennett DA, Blennow K, Carrillo MC, Feldman HH, Frisoni GB, Hampel H, Jagust WJ, Johnson KA, Knopman DS, Petersen RC, Scheltens P, Sperling RA, Dubois B. A/T/N: An unbiased descriptive classification scheme for Alzheimer disease biomarkers. Neurology. 2016 Aug 2;87(5):539-47. doi: 10.1212/WNL.0000000000002923.
34. Jack, CR, Jr, Andrews, SJ, Beach, TG, Buracchio, T, Dunn, B, Graf, A, et al. Revised criteria for the diagnosis and staging of Alzheimer's disease. Nature medicine, 2024; 30(8), 2121–2124.
35. Neuner SM, Tcw J, Goate AM. Genetic architecture of Alzheimer's disease. Neurobiol Dis. 2020 Sep;143:104976. doi: 10.1016/j.nbd.2020.104976.
36. Gatz M, Reynolds CA, Fratiglioni L, Johansson B, Mortimer JA, Berg S, et al. Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry. 2006 Feb;63(2):168-74. doi: 10.1001/archpsyc.63.2.168.
37. Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J. Early-onset Alzheimer’s disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature, 1991; 353: 844–846. doi:10.1038/353844a0.
38.Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, et al. Cloning of a gene bearing missense mutations in early onset familial Alzheimer’s disease. Nature 375: 754–760, 1995. doi:10.1038/375754a0.
39. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K. Candidate gene for the chromosome 1 familial Alzheimer’s disease locus. Science,1995; 269: 973–977. doi:10.1126/science.7638622.
39. Alzheimer's Association. Alzheimer’s disease facts and figures. Alzheimers Dement., 2020; 16:391–460. doi: 10.1002/ALZ.12068
40. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science. 1993;261:921–923. doi: 10.1126/science.8346443.
41. Andrews SJ, Renton AE, Fulton-Howard B, Podlesny-Drabiniok A, Marcora E, Goate AM. The complex genetic architecture of Alzheimer's disease: novel insights and future directions. EBioMedicine. 2023 Apr;90:104511. doi: 10.1016/j.ebiom.2023.104511.
42.Zetterberg H, Blennow K. Moving fluid biomarkers for Alzheimer's disease from research tools to routine clinical diagnostics. Mol Neurodegener. 2021 Feb 19;16(1):10. doi: 10.1186/s13024-021-00430-x. PMID: 33608044; PMCID: PMC7893769.
43.Dubois B, von Arnim CAF, Burnie N, Bozeat S, Cummings J. Biomarkers in Alzheimer's disease: role in early and differential diagnosis and recognition of atypical variants. Alzheimers Res Ther. 2023 Oct 13;15(1):175. doi: 10.1186/s13195-023-01314-6. PMID: 37833762.
44. Hunter TR, Santos LE, Tovar-Moll F, De Felice FG. Alzheimer's disease biomarkers and their current use in clinical research and practice. Mol Psychiatry. 2024 Sep 4. doi: 10.1038/s41380-024-02709.
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