Work

The Alzheimer's Spectrum: Diagnostic Challenges and Nosology in a Clinically Heterogeneous Disease

Year: 2017
Type: dissertation
Abstract: Hypothesis: Alzheimer's disease (AD) is not a unitary condition but a phenotype spectrum. Rationale: Mounting evidence suggests AD is more complex than previously thought. A new AD conceptualization accounting for this biologic and clinical complexity is needed. Aim: To review existing evidence for, provide a specific example of, and investigate the nosological impact of AD heterogeneity. Methods: Three studies were done using (1) literature review, (2) imaging analysis case series, and (3) systematic chart review. Results: AD is heterogeneous and sub-syndromes exist. Extreme heterogeneity results in syndrome mimicry with blending of imaging markers. Wide variation in diagnostic classification occurs even with standardized application of consensus criteria. Conclusions: AD is not a single disease but a spectrum of sub-syndromes (core phenotype and atypical sub-syndromes). The AD conceptual framework must evolve to acknowledge, define, and anticipate this complexity, harnessing it to improve diagnostic precision and facilitate treatment discovery.
Author: Benjamin Lam
Language: English
Field: Medicine
Open Access status: green
OpenAlex ID: W2795339085
Cites: 98
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Related to: 10