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 - PubMed (original) (raw)
doi: 10.1016/j.jalz.2011.03.003. Epub 2011 Apr 21.
Paul S Aisen, Laurel A Beckett, David A Bennett, Suzanne Craft, Anne M Fagan, Takeshi Iwatsubo, Clifford R Jack Jr, Jeffrey Kaye, Thomas J Montine, Denise C Park, Eric M Reiman, Christopher C Rowe, Eric Siemers, Yaakov Stern, Kristine Yaffe, Maria C Carrillo, Bill Thies, Marcelle Morrison-Bogorad, Molly V Wagster, Creighton H Phelps
Affiliations
- PMID: 21514248
- PMCID: PMC3220946
- DOI: 10.1016/j.jalz.2011.03.003
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
Reisa A Sperling et al. Alzheimers Dement. 2011 May.
Abstract
The pathophysiological process of Alzheimer's disease (AD) is thought to begin many years before the diagnosis of AD dementia. This long "preclinical" phase of AD would provide a critical opportunity for therapeutic intervention; however, we need to further elucidate the link between the pathological cascade of AD and the emergence of clinical symptoms. The National Institute on Aging and the Alzheimer's Association convened an international workgroup to review the biomarker, epidemiological, and neuropsychological evidence, and to develop recommendations to determine the factors which best predict the risk of progression from "normal" cognition to mild cognitive impairment and AD dementia. We propose a conceptual framework and operational research criteria, based on the prevailing scientific evidence to date, to test and refine these models with longitudinal clinical research studies. These recommendations are solely intended for research purposes and do not have any clinical implications at this time. It is hoped that these recommendations will provide a common rubric to advance the study of preclinical AD, and ultimately, aid the field in moving toward earlier intervention at a stage of AD when some disease-modifying therapies may be most efficacious.
Copyright © 2011. Published by Elsevier Inc.
Figures
Fig. 1
Model of the clinical trajectory of Alzheimer's disease (AD). The stage of preclinical AD precedes mild cognitive impairment (MCI) and encompasses the spectrum of presymptomatic autosomal dominant mutation carriers, asymptomatic biomarker-positive older individuals at risk for progression to MCI due to AD and AD dementia, as well as biomarker-positive individuals who have demonstrated subtle decline from their own baseline that exceeds that expected in typical aging, but would not yet meet criteria for MCI. Note that this diagram represents a hypothetical model for the pathological-clinical continuum of AD but does not imply that all individuals with biomarker evidence of AD-pathophysiological process will progress to the clinical phases of the illness.
Fig. 2
Hypothetical model of the Alzheimer's disease (AD) pathophysiological sequence leading to cognitive impairment. This model postulates that amyloid beta (Aβ) accumulation is an “upstream” event in the cascade that is associated with “downstream” synaptic dysfunction, neurodegeneration, and eventual neuronal loss. Note that although recent work from animal models suggests that specific forms of Aβ may cause both functional and morphological synaptic changes, it remains unknown whether Aβ is sufficient to incite the neurodegenerative process in sporadic late-onset AD. Age and genetics, as well as other specific host factors, such as brain and cognitive reserve, or other brain diseases may influence the response to Aβ and/or the pace of progression toward the clinical manifestations of AD.
Fig. 3
Hypothetical model of dynamic biomarkers of the AD expanded to explicate the preclinical phase: Aβ as identified by cerebrospinal fluid Aβ42 assay or PET amyloid imaging. Synaptic dysfunction evidenced by fluorodeoxyglucose (F18) positron emission tomography (FDG-PET) or functional magnetic resonance imaging (fMRI), with a dashed line to indicate that synaptic dysfunction may be detectable in carriers of the _ε_4 allele of the apolipoprotein E gene before detectable Aβ deposition. Neuronal injury is evidenced by cerebrospinal fluid tau or phospho-tau, brain structure is evidenced by structural magnetic resonance imaging. Biomarkers change from normal to maximally abnormal (y-axis) as a function of disease stage (x-axis). The temporal trajectory of two key indicators used to stage the disease clinically, cognitive and behavioral measures, and clinical function are also illustrated. Figure adapted with permission from Jack et al [22].
Fig. 4
Postulated temporal lag of approximately a decade between the deposition of Aβ (% of individuals with amyloid plaques in a large autopsy series [68]) and the clinical syndrome of AD dementia (estimated prevalence from three epidemiological studies [–71]). Figure courtesy of Mark Mintun and John Morris, Washington University.
Fig. 5
Graphic representation of the proposed staging framework for preclinical AD. Note that some individuals will not progress beyond Stage 1 or Stage 2. Individuals in Stage 3 are postulated to be more likely to progress to MCI and AD dementia. Abbreviations: AD, Alzheimer's disease; Ab, amyloid beta; PET, position emission tomography; CSF, cerebrospinal fluid; FDG, fluorodeoxyglucose, fMRI, functional magnetic resonance imaging, sMRI, structural magnetic resonance imaging.
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