MRI-based mild cognitive impairment and Alzheimer's disease classification using an algorithm of combination of variational autoencoder and other machine learning classifiers

Background Correctly diagnosing mild cognitive impairment (MCI) and Alzheimer's disease (AD) is important for patient selection in drug discovery. Research outcomes on stage diagnosis using neuroimages combined with cerebrospinal fluid and genetic biomarkers are expensive and time-consuming. Only structural magnetic resonance imaging (sMRI) scans from two internationally recognized datasets are employed as input as well as test and independent validation to determine the classification of dementia by the machine learning algorithm. Objective We extract the reduced dimensional latent feature vector from the sMRI scans using a variational autoencoder (VAE). The objective is to classify AD, MCI, and control (CN) using MRI and without any other information. Methods The extracted feature vectors from MRI scans by VAE are used as input conditions for different advanced machine-learning classifiers. Classification of AD/CN/MCI are conducted using the output of VAE from MRI images and different artificial intelligence/machine learning classifier models in two cohorts. Results Using only MRI scans, the primary goal of the study is to test the ability to classify AD from CN and MCI cases. The current study achieved classification accuracies of AD versus CN 75.45% (F1-score = 79.52%), AD versus MCI 81.41% (F1-Score = 87.06%), and autopsy-confirmed AD versus MCI 92.75% (F1-Score = 95.52%) in test sets and AD versus CN 86.16% (F1-score = 92.03%) and AD versus MCI 70.03% (F1-Score = 82.1%) in validation data set. Conclusions By overcoming the data leakage problem, the autopsy-confirmed machine learning classification model is tested in two independent cohorts. External validation by an independent cohort improved the quality and novelty of the classification algorithm.