Особенности семейной формы болезни Альцгеймера с ранним началом


DOI: https://dx.doi.org/10.18565/pharmateca.2018.14.18-25

Ю.Е. Черданцева (1), А.С. Орлова (1), Е.С. Акарачкова (2), А.Ю. Алексеева (1), М.А. Акулов (3), В.А. Дадаева (4), В.А. Орлов (5)

1) Первый Московский государственный университет им. И.М. Сеченова (Сеченовский Университет), Москва, Россия; 2) Международное общество «Стресс под контролем», Москва, Россия; 3) НМИЦ нейрохирургии им. Н.Н. Бурденко, Москва, Россия; 4) Национальный медицинский исследовательский центр профилактической медицины, Москва, Россия; 5) ПКБ № 4 им. П.Б. Ганнушкина ДЗМ, Москва, Россия
Болезнь Альцгеймера (БА) – наиболее распространенная форма деменции в клинической практике. Хуже диагностируется ранняя форма БА в связи с редкой встречаемостью. В данной статье представлен актуальный обзор данных о частоте встречаемости, патоморфологии головного мозга, клинической картине, диагностике и медикаментозном лечении БА с ранним началом. Особое внимание уделено генетическим аспектам БА с аутосомно-доминантным типом наследования.
Ключевые слова: деменция, семейная форма болезни Альцгеймера с ранним началом, ингибиторы центральной ацетилхолинэстеразы, блокаторы NMDA-рецепторов

Литература


1. Науменко А.А., Громова Д.О., Трофимова Н.В., Преображенская И.С. Диагностика и лечение болезни Альцгеймера. Неврология, нейропсихиатрия, психосоматика. 2016;8(4):91–7.

2. Panegyres P.K., Chen H.Y., et al. Early-onset Alzheimer’s disease: a global cross-sectional analysis. Eur. J. Neurol. 2014;21(9):1149–54.

3. Alzheimer’s association. URL: https://www.alz.org/. 2018.

4. Ватолина М.А. Проблемы оценки смертности от болезни Альцгеймера в России. Здравоохранение Российской Федерации. 2015;59(4):20–4.

5. Seltzer B., Sherwin I. A comparison of clinical features in early- and late-onset primary degenerative dementia. One entity or two? Arch. Neurol. 1983;40(3):143–46.

6. Dorszewska J., Prendecki M., Oczkowska A., et al. Molecular Basis of Familial and Sporadic Alzheimer’s Disease. Curr. Alzh. Res. 2016;13(9):952–63.

7. Day G.S., Musiek E.S., Roe C.M., et al. Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-FamilyCase-Control Study. JAMA. Neurol. 2016;73(9):1125–32.

8. Abbate C., Arosio B., Cantatore A., et al. Familial late-onset Alzheimer’s disease: description of an Italian family with four affected siblings and one case of early-onset dementia in the preceding generation. Aging. Clin. Exp. Res. 2016;28(5):991–95.

9. Shea Y.F., Chu L.W., Chan A.O., et al. A systematic review of familial Alzheimer’s disease: Differences in presentation of clinical features among three mutated genes and potential ethnic ifferences. J. Formos. Med. Assoc. 2016;115(2):67–75.

10. Dai M.H., Zheng H., Zeng L.D., Zhang Y. The genes associated with early-onset Alzheimer’s disease. Oncotarget. 2017;15:15132–43.

11. Wu L., Rosa-Neto P., Hsiung G.Y., et al. Early-onset familial Alzheimer’s disease (EOFAD). Can. J. Neurol. Sci. 2012;39(4):436–45.

12. Müller S., Preische O., Sohrabi H.R., et al. Relationship between physical activity, cognition, and Alzheimer pathology in autosomal dominant Alzheimer’s disease. Alzh. Dement. 2018;21:1552–60 .

13. Niu F., Yu S., Zhang Z., et al. Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer’s disease in a Chinese Han family. Neurobiol. Aging. 2014;35(10):2420.

14. Яузина Н.А., Комлева Ю.К., Салмина А.Б. и др. Эпидемиология болезни Альцгеймера в мире. Неврологический журнал. 2012;17:32–7.

15. Гаврилова С.И., Колыхалов И.В. Разработка стандарта терапии болезни Альцгеймера. Современная терапия в психиатрии и неврологии. 2012;1:5–10.

16. Wu L., Rosa-Neto P., Hsiung G.Y., et al. Early-onset familial Alzheimer’s disease (EOFAD). Can. J. Neurol. Sci. 2012;39(4):436–45.

17. Cacace R., Sleegers K., Van Broeckhoven C. Molecular genetics of early-onset Alzheimer’s disease revisited. Alzh. Dement. 2016;12(6):733–48.

18. Колыхалов И.В. Некогнитивные психические расстройства при болезни Альцгеймера: эпидемиологические, клинико-психопатологические, прогностические и терапевтические аспекты. Дисс. докт. мед. наук. М., 2016.

19. Белоусов Ю.Б., Зырянов С.К., Белоусов Д.Ю., Бекетов А.С. Клинико-экономические аспекты терапии болезни Альцгеймера в России. Качественная клиническая практика. 2009;1:3–28.

20. Комлева Ю.К., Кувачева Н.В., Лопатина О.Л. Современные представления о патогенезе болезни Альцгеймера: новые подходы к фармакотерапии (обзор). Современные технологии в медицине. 2015;7(3):138–48.

21. Hersi M., Irvine B., Gupta P., et al. Risk factors associated with the onset and progression of Alzheimer’s disease: A systematic review of the evidence. Neurotoxicol. 2017;6:143–87.

22. Wingo T.S., Lah J.J., Levey A.I., Cutler D.J. Autosomal recessive causes likely in early-onset Alzheimer disease. Arch. Neurol. 2012;69:59–64.

23. Jarmolowicz A.I., Chen H.Y., Panegyres P.K. The Patterns of Inheritance in Early-Onset Dementia: Alzheimer’s Disease and Frontotemporal Dementia. Am. J. Alzh. Dis. Other Demen. 2014;30:299–306.

24. Janssen J.C., Beck J.A., Campbell T.A., et al. Early onset familial Alzheimer’s disease: mutation frequency in 31 families. Neurol. 2003;60:235–39.

25. Alzforum networking for a cure. URL: https://www.alzforum.org/mutations. 2018.

26. Ikeuchi T., Kaneko H., Miyashita A., et al. Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations. Dement. Geriatr. Cogn. Disord. 2008;26:43–9.

27. Barber I.S., Braae A., Clement N., et al. Mutation analysis of sporadic early-onset Alzheimer’s disease using the NeuroX array. Neurobiol. Aging. 2017;49:215.

28. Lanoiselée H.M., Nicolas G., Wallon D., et al. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. PLoS. Med. 2017;14(3):e1002270.

29. Shao W., Peng D., Wang X. Genetics of Alzheimer’s disease: From pathogenesis to clinical usage. J. Clin. Neurosci. 2017;45:1–8.

30. Liu C.C., Liu C.C., Kanekiyo T., et al. Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. Nat. Rev. Neurol. 2013;9(2):106–18.

31. Alzheimer’s Association. Alzheimer’s disease facts and figures. Alzh. Dement. 2016;12(4):459–509.

32. Rajah M.N., Wallace L.M.K., Ankudowich E., et al. Family history and APOE4 risk for Alzheimer’s disease impact the neural correlates of episodic memory by early midlife. Neuroimage Clin. 2017;14:760–74.

33. Zhu J.B., Tan C.C., Tan L., Yu J.T. State of Play in Alzheimer’s Disease Genetics. J. Alzh. Dis. 2017;58(3):631–59.

34. Butters M.A., Sweet R.A., Mulsant B.H., et al. APOE is associated with age-of-onset, but not cognitive functioning, in late-life depression. Int. J. Geriatr. Psychiatry. 2003;18(1):1075–81.

35. Bateman R.J., Aisen P.S., De Strooper B., et al. Autosomal-dominant Alzheimer’s disease: a review and proposal for the prevention of Alzheimer’s disease. Alzh. Res. Ther. 2011;2:35.

36. Albert M.S., DeKosky S.T., Dickson D., et al. The diagnosis of mild cognitive impairment due to Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. Alzh. Dement. 201;7:270–79.

37. McKhann G.M., Knopman D.S., Chertkow H., et al. The diagnosis of dementia due to Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. Alzh. Dement. 2011;7:263–69.

38. Sperling R.A., Aisen P.S., Beckett L.A., 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. Alzh. Dement. 2011;7:280–92.

39. De la Torre J.C. Three postulates to help identify the cause of Alzheimer’s disease. J Alzh. Dis. 2011;24:657–68.

40. Glass C.K., Saijo K., Winner B., et al. Mechanisms underlying inflammation in neurodegeneration. Cell. 2010;140:918–34.

41. Hardy J., Selkoe D.J. The amyloid hypothesis of Alzheimer’s disease: progress and problems on the road to therapeutics. Sci. 2002;297:353–56.

42. Bettens K., Sleegers K., Van Broeckhoven C. Current status on Alzheimer disease molecular genetics: from past, to present, to future. Hum. Mol. Genet. 2010;19:4–11.

43. Esler W.P., Wolfe M.S. A portrait of Alzheimer secretases – new features and familiar faces. Sci. 2001;293:1449–54.

44. Citron M., Oltersdorf T., Haass C., et al. Mutation of the beta-amyloid precursor protein in familial Alzheimers-disease increases betaprotein production. Nature. 1992;360:672–74.

45. Suzuki N., Cheung T.T., Cai X.D., et al. An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants. Sci. 1994;26:1336–40.

46. Steiner H. Uncovering gamma-secretase. Curr. Alzh. Res. 2004;1:175–81.

47. Преображенская И.С. Современные подходы к диагностике и лечению болезни Альцгеймера. Медицинский совет. 2017;10:26–31.

48. Jan A.T., Azam M., Rahman S., et al. Perspective Insights into Disease Progression, Diagnostics, and Therapeutic Approaches in Alzheimer’s Disease: A Judicious Update. Front Aging Neurosci. 2017;9:356.

49. Maccioni R.B., Muñoz J.P., Barbeito L. The molecular bases of Alzheimer’s disease and other neurodegenerative disorders. Arch. Med. Res. 2001;32(5):367–81.

50. Freudenberg-Hua Y., Li W., Davies P. The Role of Genetics in Advancing Precision Medicine for Alzheimer’s Disease-A Narrative Review. Front. Med. (Lausanne). 2018;5:108.

51. Kong D., Giovanello K.S., Wang Y., et al. Predicting Alzheimer’s Disease Using Combined Imaging-Whole Genome SNP Data. J. Alzh. Dis. 2015;46(3):695–702.

52. Яхно Н.Н., Захаров В.В., Локшина А.Б. и др. Деменции. 3-е изд. Руководство для врачей. М., 2011. 272 с.

53. Науменко А.А., Вахнина Н.В. Болезнь Альцгеймера под маской инсульта. Неврология, нейропсихиатрия, психосоматика 2016;8(2):100–6.

54. Penninkilampi R., Brothers H.M., Eslick G.D. Safety and Efficacy of Anti-Amyloid-β Immunotherapy in Alzheimer’s Disease: A Systematic Review and Meta-Analysis. J. Neuroimmune Pharmacol. 2017;12(1):194–203.

55. Wang C.H., Wang L.S., Zhu N. Cholinesterase inhibitors and non-steroidal anti-inflammatory drugs as Alzheimer’s disease therapies: an updated umbrella review of systematic reviews and meta-analyses. Eur. Rev. Med. Pharmacol. Sci. 2016;20(22):4801–17.

56. Matsunaga S., Kishi T., Iwata N. Combination therapy with cholinesterase inhibitors and memantinefor Alzheimer’s disease: a systematic review and meta-analysis. Int. J. Neuropsychopharmacol. 2014;28:1–11.

57. Matsunaga S., Kishi T., Iwata N. Memantine monotherapy for Alzheimer’s disease: a systematic review and meta-analysis. PLoS. One. 2015;10(4):e0123289.

58. Kishi T., Matsunaga S., Oya K., et al. Memantine for Alzheimer’s Disease: An Updated Systematic Review and Meta-analysis. J. Alzh. Dis. 2017;60(2):401–25.

59. Jiang J., Jiang H. Efficacy and adverse effects of memantine treatment for Alzheimer’s disease from randomized controlled trials. Neurol. Sci. 2015;36(9):1633–41.

60. Liu C.S., Ruthirakuhan M., Chau S.A., et al. Pharmacological Management of Agitation and Aggression in Alzheimer’s Disease: A Review of Current and Novel Treatments. Curr. Alzh. Res. 2016;13(10):1134–44.

61. Panza F., Solfrizzi V., Imbimbo B.P., et al. Amyloid-based immunotherapy for Alzheimer’s disease in the time of prevention trials: the way forward. Exp. Rev. Clin. Immunol. 2014;10(3):405–19.

62. Lannfelt L., Relkin N.R., Siemers E.R. Amyloid-β-directed immunotherapy for Alzheimer’s disease.J. Intern. Med. 2014;275(3):284–95.

63. Panza F., Solfrizzi V., Imbimbo B.P., et al. Efficacy and safety studies of gantenerumab in patients with Alzheimer’s disease. Exp. Rev. Neurother. 2014;14(9):973–86.

64. Ostrowitzki S., Lasser R.A., Dorflinger E., et al.A phase III randomized trial of gaсntenerumab in prodromal Alzheimer’s disease. Alzh. Res. Ther. 2017;9(1):95.


Об авторах / Для корреспонденции


Автор для связи: Е.С. Акарачкова, д.м.н., президент Международного общества «Стресс под контролем», Москва, Россия; e-mail: nevrorus@mail.ru
Адрес: 115573, Россия, Москва, ул. Мусы Джалиля, 40


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