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Cardiovascular risk factors increase the risk of developing dementia, including Alzheimer’s disease and vascular dementia. Objective: Studying individuals with autosomal dominant mutations leading to the early onset of dementia, this study examines the effect of the global cardiovascular risk profile on early cognitive and neuroimaging features of Alzheimer’s disease and vascular dementia. Methods: We studied 85 non-demented and stroke-free individuals, including 20 subjects with Presenilin1 (PSEN1) E280A mutation leading to the early onset of autosomal dominant Alzheimer’s disease (ADAD), 20 subjects with NOTCH3 mutations leading to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to the early onset of vascular dementia, and 45 non-affected family members (non-carriers). All subjects underwent clinical and neuropsychological evaluations and an MRI. The global cardiovascular risk profile was estimated using the office-based Framingham Cardiovascular Risk Profile (FCRP) score. Results: In individuals with CADASIL, a higher FCRP score was associated with a reduced hippocampal volume (B = –0.06, p < 0.05) and an increased severity of cerebral microbleeds (B = 0.13, p < 0.001), lacunes (B = 0.30, p < 0.001), and perivascular space enlargement in the basal ganglia (B = 0.50, p < 0.05). There was no significant association between the FCRP score and neuroimaging measures in ADAD or non-carrier subjects. While the FCRP score was related to performance in executive function in non-carrier subjects (B = 0.06, p < 0.05), it was not significantly associated with cognitive performance in individuals with CADASIL or ADAD. Conclusion: Our results suggest that individuals with CADASIL and other forms of vascular cognitive impairment might particularly benefit from early interventions aimed at controlling cardiovascular risks.\u003C\u002Fjats:p>","\u003Cjats:p>Nền tảng: Các yếu tố nguy cơ tim mạch làm tăng khả năng phát triển chứng mất trí nhớ, bao gồm bệnh Alzheimer và chứng mất trí nhớ mạch máu. Mục tiêu: Nghiên cứu những cá nhân có đột biến di truyền theo kiểu trội autosome dẫn đến sự khởi phát sớm của chứng mất trí nhớ, nghiên cứu này nhằm xem xét ảnh hưởng của hồ sơ nguy cơ tim mạch toàn cầu đến các đặc điểm nhận thức và hình ảnh thần kinh sớm của bệnh Alzheimer và chứng mất trí nhớ mạch máu. Phương pháp: Chúng tôi đã nghiên cứu 85 cá nhân không bị mất trí nhớ và không có tiền sử đột quỵ, bao gồm 20 đối tượng có đột biến Presenilin1 (PSEN1) E280A dẫn đến sự khởi phát sớm của bệnh Alzheimer di truyền trội autosome (ADAD), 20 đối tượng có đột biến NOTCH3 dẫn đến bệnh lý động mạch não di truyền trội autosome với nhồi máu dưới vỏ và bệnh lý bạch cầu (CADASIL) và đến sự khởi phát sớm của chứng mất trí nhớ mạch máu, cùng với 45 thành viên gia đình không bị ảnh hưởng (không mang gen). Tất cả các cá nhân đều được tiến hành đánh giá lâm sàng và tâm lý thần kinh cũng như chụp cộng hưởng từ (MRI). Hồ sơ nguy cơ tim mạch toàn cầu được ước tính bằng điểm số Hồ sơ Nguy cơ Tim mạch Framingham (FCRP) dựa trên văn phòng. Kết quả: Ở những cá nhân mắc CADASIL, điểm số FCRP cao hơn liên quan đến thể tích hồi hải mã giảm (B = –0.06, p \u003C 0.05) và mức độ nghiêm trọng gia tăng của các microbleeds não (B = 0.13, p \u003C 0.001), lacunes (B = 0.30, p \u003C 0.001) và sự mở rộng khoảng không gian quanh mạch ở hạch nền (B = 0.50, p \u003C 0.05). Không có sự liên hệ đáng kể nào giữa điểm số FCRP và các biện pháp hình ảnh thần kinh ở những đối tượng ADAD hoặc những người không mang gen. Trong khi điểm số FCRP có liên hệ với hiệu suất trong chức năng điều hành ở những đối tượng không mang (B = 0.06, p \u003C 0.05), nó không liên quan một cách đáng kể đến hiệu suất nhận thức ở những cá nhân mắc CADASIL hoặc ADAD. Kết luận: Kết quả của chúng tôi gợi ý rằng những cá nhân mắc CADASIL và các dạng suy giảm nhận thức mạch máu khác có thể đặc biệt hưởng lợi từ những can thiệp sớm nhằm kiểm soát các yếu tố nguy cơ tim mạch.\u003C\u002Fjats:p>",{"EN":1153,"VI":1154},"Global Cardiovascular Risk Profile and Cerebrovascular Abnormalities in Presymptomatic Individuals with CADASIL or Autosomal Dominant Alzheimer’s Disease","Hồ Sơ Nguy Cơ Tim Mạch Toàn Cầu và Những Bất Thường Về Mạch Máu Não ở Những Cá Nhân Tiền Triệu Chứng với CADASIL hoặc Bệnh Alzheimer Di Truyền 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Triggering receptor expressed on myeloid cells 2 (TREM2) activates the innate immune system, promotes phagocytosis by microglia, and is associated with Alzheimer’s disease (AD). The possible role of a related molecule, TREM1, in AD remains unknown. \u003C\u002Fjats:p>\u003C\u002Fjats:sec>\u003Cjats:sec>\u003Cjats:title>Objective:\u003C\u002Fjats:title>\u003Cjats:p> We investigated a possible role for TREM1 in AD by determining the gene expression and methylation levels of TREM1 in leukocytes from AD patients. \u003C\u002Fjats:p>\u003C\u002Fjats:sec>\u003Cjats:sec>\u003Cjats:title>Methods:\u003C\u002Fjats:title>\u003Cjats:p> Fifty patients with AD and 50 age-matched healthy controls were enrolled. AD patients underwent a battery of neuropsychiatric tests. Peripheral blood samples were obtained from each participant, RNA and DNA were extracted, and samples were assessed for TREM1 mRNA expression and methylation rates at three CpG sites in the TREM1 promoter. \u003C\u002Fjats:p>\u003C\u002Fjats:sec>\u003Cjats:sec>\u003Cjats:title>Results:\u003C\u002Fjats:title>\u003Cjats:p> TREM1 mRNA expression levels in AD patients were significantly higher than those in controls ( p = 0.008). TREM1 mRNA expression levels were not correlated with sex, age, duration of illness, APOE genotype, donepezil treatment, or scores of most neuropsychiatric tests. TREM1 mRNA expression levels in AD patients were correlated with the total score of the Montgomery-Åsberg Depression Rating Scale ( p = 0.047, r = – 0.344). Methylation rates at the three CpG sites were significantly lower in AD patients than in controls. 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