APOE4 homozygozity represents a distinct genetic form of Alzheimer’s disease

Bellenguez, C. et al. New insights into the genetic etiology of Alzheimer’s disease and related dementias. Nat. Genet. 54, 412–436 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Frisoni, G. B. et al. The probabilistic model of Alzheimer disease: the amyloid hypothesis revised. Nat. Rev. Neurosci. 23, 53–66 (2022).

Article  CAS  PubMed  Google Scholar 

Bateman R. J. et al. Clinical and biomarker changes in dominantly inherited Alzheimer’s disease. N. Engl. J. Med. 367, 795–804 (2012).

Genin, E. et al. APOE and Alzheimer disease: a major gene with semidominant inheritance. Mol. Psychiatry 16, 903–907 (2011).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fortea, J. et al. Alzheimer’s disease associated with Down syndrome: a genetic form of dementia. Lancet Neurol. 20, 930–942 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fortea, J. et al. Clinical and biomarker changes of Alzheimer’s disease in adults with Down syndrome: a cross-sectional study. Lancet 395, 1988–1997 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jansen, W. J. et al. Prevalence of cerebral amyloid pathology in persons without dementia: a meta-analysis. JAMA 313, 1924–1938 (2015).

Article  PubMed  PubMed Central  Google Scholar 

Saddiki H. et al. Age and the association between apolipoprotein E genotype and Alzheimer disease: a cerebrospinal fluid biomarker-based case-control study. PLoS Med. https://doi.org/10.1371/JOURNAL.PMED.1003289 (2020).

Jack, C. R. et al. NIA‐AA Research Framework: toward a biological definition of Alzheimer’s disease. Alzheimer’s Dement. 14, 535–562 (2018).

Article  Google Scholar 

Beekly, D. L. et al. The National Alzheimer’s Coordinating Center (NACC) Database: an Alzheimer disease database. Alzheimer Dis. Assoc. Disord. 18, 270–277 (2004).

PubMed  Google Scholar 

Montine, T. J. et al. National Institute on Aging–Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease: a practical approach. Acta Neuropathol. 123, 1–11 (2012).

Article  CAS  PubMed  Google Scholar 

Reiman, E. M. et al. Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study. Nat. Commun. 11, 1–11 (2020).

Article  Google Scholar 

Iulita M. F. et al. Association of Alzheimer disease with life expectancy in people with Down syndrome. JAMA Netw. Open https://doi.org/10.1001/JAMANETWORKOPEN.2022.12910 (2022).

Corder, E. H. et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science 261, 921–923 (1993).

Article  CAS  PubMed  Google Scholar 

Fortea, J., Quiroz, Y. T. & Ryan, N. S. Lessons from Down syndrome and autosomal dominant Alzheimer’s disease. Lancet Neurol. 22, 5–6 (2023).

Article  CAS  PubMed  Google Scholar 

Therriault, J. et al. Frequency of biologically defined Alzheimer’s disease in relation to age, sex, APOE ε4, and cognitive impairment. Neurology 96, e975–e985 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Betthauser, T. J. et al. Multi-method investigation of factors influencing amyloid onset and impairment in three cohorts. Brain 145, 4065–4079 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Snellman, A. et al. APOE ε4 gene dose effect on imaging and blood biomarkers of neuroinflammation and beta-amyloid in cognitively unimpaired elderly. Alzheimers Res. Ther. 15, 71 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ghisays, V. et al. Brain imaging measurements of fibrillar amyloid-β burden, paired helical filament tau burden, and atrophy in cognitively unimpaired persons with two, one, and no copies of the APOE ε4 allele. Alzheimers Dement. 16, 598–609 (2020).

Mehta, R. I. & Schneider, J. A. What is ‘Alzheimer’s disease’? The neuropathological heterogeneity of clinically defined Alzheimer’s dementia. Curr. Opin. Neurol. 34, 237–245 (2021).

Article  CAS  PubMed  Google Scholar 

van der Lee, S. J. et al. The effect of APOE and other common genetic variants on the onset of Alzheimer’s disease and dementia: a community-based cohort study. Lancet Neurol. 17, 434–444 (2018).

Article  CAS  PubMed  Google Scholar 

Belloy, M. E., Napolioni, V. & Greicius, M. D. A quarter century of APOE and Alzheimera’s disease: progress to date and the path forward. Neuron 101, 820–838 (2019).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Belloy, M. E. et al. APOE genotype and Alzheimer disease risk across age, sex, and population ancestry. JAMA Neurol. 80, 1284–1294 (2023).

Article  PubMed  PubMed Central  Google Scholar 

Jack, C. R. et al. Long-term associations between amyloid positron emission tomography, sex, apolipoprotein E and incident dementia and mortality among individuals without dementia: hazard ratios and absolute risk. Brain Commun. 4, fcac017 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Morris, J. C. The Clinical Dementia Rating (CDR): current version and scoring rules.Neurology 43, 2412–2414 (1993).

Article  CAS  PubMed  Google Scholar 

Weiner, M. W. et al. The Alzheimer’s Disease Neuroimaging Initiative 3: continued innovation for clinical trial improvement. Alzheimer’s Dement. 13, 561–571 (2017).

Article  Google Scholar 

Sperling R. A. et al. The A4 Study: stopping AD before symptoms begin? Sci. Transl. Med. https://doi.org/10.1126/scitranslmed.3007941 (2014).

Molinuevo, J. L. et al. The ALFA project: a research platform to identify early pathophysiological features of Alzheimer’s disease. Alzheimer’s Dement.: Transl. Res. Clin. Interventions 2, 82–92 (2016).

Article  Google Scholar 

Johnson, S. C. et al. The Wisconsin Registry for Alzheimer’s Prevention: a review of findings and current directions. Alzheimer’s Dement.: Diagnosis, Assess. Dis. Monit. 10, 130–142 (2018).

Google Scholar 

LaMontagne P. J. et al. OASIS-3: longitudinal neuroimaging, clinical and cognitive dataset for normal aging and Alzheimer disease. Preprint at MedRxiv https://doi.org/10.1101/2019.12.13.19014902 (2019).

La Joie, R. et al. Multisite study of the relationships between antemortem [11C]PIB-PET Centiloid values and postmortem measures of Alzheimer’s disease neuropathology. Alzheimers Dement. 15, 205–216 (2019).

Montal, V. APOE4-ASDAD. GitLab https://gitlab.com/vmontalb/apoe4-asdad (2024).

留言 (0)

沒有登入
gif