用大脑结构随年龄变化规律,区分多种神经退行性疾病。
Lifespan tree of brain anatomy: diagnostic values for motor and cognitive neurodegenerative diseases
- 构建脑结构体积随寿命变化的动态模型,结合降维与合成采样。
- 在1754例外部验证中,对六种痴呆和四种帕金森病因诊断准确率提升。
- 适合缺乏生物标志物的神经退行性疾病,临床可解释性强。
神经退行性疾病因症状重叠而难以鉴别。尽管脑成像结合人工智能可用于辅助诊断,但现有方法多仅能区分单一疾病与健康对照。本文提出一种新型机器学习框架——生命历程脑解剖树(lifespan tree of brain anatomy),用于同时区分多种疾病。该方法融合124个脑区体积随寿命变化的建模、非线性降维与合成采样技术,生成易于解读的疾病进展阶段脑结构表征。作为临床验证案例,我们构建了针对六种痴呆原因的认知生命历程脑解剖树,以及针对四种帕金森综合征的运动生命历程脑解剖树,训练数据来自37,594例MRI。在1,754例外部验证队列中,该方法显著提升鉴别效率,优于现有先进机器学习技术。生命历程脑解剖树有望成为缺乏有效生物标志物的临床情境下重要的鉴别诊断工具。
原文摘要 · Abstract (English)
The differential diagnosis of neurodegenerative diseases, characterized by overlapping symptoms, may be challenging. Brain imaging coupled with artificial intelligence has been previously proposed for diagnostic support, but most of these methods have been trained to discriminate only isolated diseases from controls. Here, we develop a novel machine learning framework, named lifespan tree of brain anatomy, dedicated to the differential diagnosis between multiple diseases simultaneously. It integrates the modeling of volume changes for 124 brain structures during the lifespan with non-linear dimensionality reduction and synthetic sampling techniques to create easily interpretable representations of brain anatomy over the course of disease progression. As clinically relevant proof-of-concept applications, we constructed a cognitive lifespan tree of brain anatomy for the differential diagnosis of six causes of neurodegenerative dementia and a motor lifespan tree of brain anatomy for the differential diagnosis of four causes of parkinsonism using 37594 MRI as a training dataset. This original approach enhanced significantly the efficiency of differential diagnosis in the external validation cohort of 1754 cases, outperforming existing state-of-the art machine learning techniques. Lifespan tree holds promise as a valuable tool for differential diagnostic in relevant clinical conditions, especially for diseases still lacking effective biological markers.
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