AI活用血液検査で認知症診断を高度化(Blood Test Powered by AI Could Transform Diagnosis of Dementia)

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2026-05-21 ワシントン大学セントルイス校

米ワシントン大学セントルイス校(WashU Medicine)の研究チームは、血液検査と人工知能(AI)を組み合わせることで、アルツハイマー病をはじめとする認知症の診断精度を大幅に向上できる可能性を示した。研究では、血液中の複数のバイオマーカーと臨床データをAIで統合解析し、脳内のアミロイドβやタウタンパク質の異常蓄積を高精度で予測した。その結果、従来のPET検査や脳脊髄液検査に比べて低侵襲かつ低コストで、認知症の早期診断や病型判別に有用であることが示された。AIは複数の生体指標の複雑な関係を学習することで診断能力を高め、症状出現前の段階で病変を検出できる可能性も示している。研究者らは、この技術が一般医療機関で利用可能になれば、より多くの患者が早期診断と適切な治療介入を受けられるようになると期待している。本成果は、認知症診断の簡便化と個別化医療の推進に向けた重要な進展であり、高齢化社会における医療負担軽減にも貢献する可能性がある。

<関連情報>

GPND-AI NULISA:神経変性疾患の診断および共病理プロファイリングのための15タンパク質AI分類器 GPND-AI NULISA: A 15-Protein AI classifier for diagnosis and co-pathology profiling across neurodegenerative diseases

Ying Xu, Marisa N Denkinger, Menghan Liu, Katherine Gong, Yike Chen, Daniel Western, Jigyasha Timsina, Yuchen Cheng, Yunchang Xie, Rui Mu, John Budde, Thomas G. Beach, Geidy E. Serrano, …
Alzheimer’s & Dementia  Published: 28 April 2026
DOI:https://doi.org/10.1002/alz.71420

AI活用血液検査で認知症診断を高度化(Blood Test Powered by AI Could Transform Diagnosis of Dementia)

Abstract

INTRODUCTION

Accurate clinical diagnosis of neurodegenerative diseases remains challenging, particularly when individuals have mixed pathologies. We implemented the generalizable protein-based neurodegenerative disease artificial intelligence (GPND-AI) classifier using the NUcleic acid-Linked Immuno-Sandwich Assay (NULISA) central nervous system (CNS) panel to classify Alzheimer’s disease, Parkinson’s disease, frontotemporal dementia, dementia with Lewy bodies, and healthy controls, while disentangling mixed pathologies.

METHODS

Proteomic and clinical information from the Charles F. and Joanne Knight Alzheimer’s Disease Research Center (Knight-ADRC) and Movement Disorder Clinic were used to train and test the GPND-AI classifier. External validation was performed in a Banner Sun Health Research Institute cohort and additional Knight-ADRC samples with neuropathologically confirmed diagnoses.

RESULTS

GPND-AI identified 15 proteins that achieve an area under the curve (AUC) of 0.955 and 92.3% accuracy across five diagnostic categories. In validation cohort, predicted co-pathologies significantly correlated with clinical characteristics.

DISCUSSION

GPND-AI identified a 15-protein panel that accurately classifies individuals across the four major neurodegenerative diseases. Validation against neuropathology-confirmed diagnoses supports the utility of proteomics-based approaches for mapping disease-specific and co-existing neurodegenerative processes.

Highlights

  • A streamlined 15-protein NUcleic acid-Linked Immuno-Sandwich Assay (NULISA) plasma panel accurately distinguished four major neurodegenerative diseases and healthy brain aging.
  • In an independent external cohort, the NULISA classifier distinguished the neurodegenerative diseases as defined by neuropathology.
  • Individual-level probability outputs capture early, ambiguous, and mixed pathological signatures, aligning with underlying amyloid/tau burden and cognitive decline.
医療・健康
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