Virtual Spectral Decomposition of Plasma Biomarkers for Non-Invasive Detection of Cerebral Amyloid Pathology: A Multi-Channel Framework with Disease-Exclusion Logic

基于虚拟光谱分解的血浆生物标志物用于无创检测脑淀粉样蛋白病理:一种具有疾病排除逻辑的多通道框架

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Abstract

BACKGROUND: Detection of cerebral amyloid pathology currently requires amyloid PET imaging ($5,000-$8,000) or cerebrospinal fluid analysis via lumbar puncture, procedures that are inaccessible for population-level screening. The FDA-cleared Lumipulse G pTau217/Aβ1-42 plasma ratio test (May 2025) represents the first approved blood-based alternative; however, single-ratio approaches cannot distinguish Alzheimer's disease (AD) from non-AD neurodegeneration or provide multi-dimensional disease characterization. METHODS: We developed Virtual Spectral Decomposition (VSD), a framework that decomposes plasma biomarker profiles into biologically interpretable diagnostic channels. Four plasma biomarkers-phosphorylated tau-217 (pTau217), amyloid-β42/40 ratio, neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP)-were measured in 1,139 Alzheimer's Disease Neuroimaging Initiative (ADNI) participants. Each biomarker was mapped to a VSD channel representing a distinct pathophysiological axis: tau/amyloid phosphorylation, amyloid clearance, neurodegeneration, and astrocytic activation. Channel weights were calibrated via logistic regression, and performance was evaluated against amyloid PET (UC Berkeley) using 10×5-fold repeated cross-validation. RESULTS: VSD 4-channel fusion achieved AUC = 0.900 (±0.018), exceeding pTau217 alone (0.888±0.022). Optimal sensitivity was 89.7% with 78.1% specificity (NPV = 90.8%). The NfL channel received a negative weight (β = -1.1), functioning as a disease-exclusion signal: elevated neurodegeneration without amyloid-tau coupling actively reduces the AD probability, distinguishing AD from non-AD neurodegeneration. Complementary CSF proteomics analysis (7,008 proteins, 533 participants) identified 17 amyloid-specific proteins (0.24% of the proteome), revealing a 49:1 tau-to-amyloid asymmetry that explains why blood-based tau markers outperform amyloid markers. CONCLUSIONS: Blood-based VSD provides an interpretable, multi-channel framework for amyloid detection that incorporates explicit disease-exclusion logic unavailable to single-biomarker approaches. The architecture extends to multi-disease screening, where the same blood specimen could be routed through disease-specific modules for AD, Parkinson's disease, and cancer.

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