scholarly journals MACHINE LEARNING AND DEEP LEARNING-BASED APPROACHES ON VARIOUS BIOMARKERS FOR ALZHEIMER’S DISEASE EARLY DETECTION: A REVIEW

Author(s):  
Ghada Alqubati ◽  
Ghaleb Algaphari

Alzheimer’s disease (AD) is a progressive neurodegenerative disorder. It can cause a massive impact on a patient's memory and mobility. As this disease is irreversible, early diagnosis is crucial for delaying the symptoms and adjusting the patient's lifestyle. Many machine learning (ML) and deep learning (DL) based-approaches have been proposed to accurately predict AD before its symptoms onset. However, finding the most effective approach for AD early prediction is still challenging. This review explored 24 papers published from 2018 until 2021. These papers have proposed different approaches using state of the art machine learning and deep learning algorithms on different biomarkers to early detect AD. The review explored them from different perspectives to derive potential research gaps and draw conclusions and recommendations. It classified these recent approaches in terms of the learning technique used and AD biomarkers. It summarized and compared their findings, and defined their strengths and limitations. It also provided a summary of the common AD biomarkers. From this review, it was found that some approaches strove to increase the prediction accuracy regardless of their complexity such as using heterogeneous datasets, while others sought to find the most practical and affordable ways to predict the disease and yet achieve good accuracy such as using audio data. It was also noticed that DL based-approaches with image biomarkers remarkably surpassed ML based-approaches. However, they achieved poorly with genetic variants data. Despite the great importance of genetic variants biomarkers, their large variance and complexity could lead to a complex approach or poor accuracy. These data are crucial to discover the underlying structure of AD and detect it at early stages. However, an effective pre-processing approach is still needed to refine these data and employ them efficiently using the powerful DL algorithms.

Author(s):  
Adwait Patil

Abstract: Alzheimer’s disease is one of the neurodegenerative disorders. It initially starts with innocuous symptoms but gradually becomes severe. This disease is so dangerous because there is no treatment, the disease is detected but typically at a later stage. So it is important to detect Alzheimer at an early stage to counter the disease and for a probable recovery for the patient. There are various approaches currently used to detect symptoms of Alzheimer’s disease (AD) at an early stage. The fuzzy system approach is not widely used as it heavily depends on expert knowledge but is quite efficient in detecting AD as it provides a mathematical foundation for interpreting the human cognitive processes. Another more accurate and widely accepted approach is the machine learning detection of AD stages which uses machine learning algorithms like Support Vector Machines (SVMs) , Decision Tree , Random Forests to detect the stage depending on the data provided. The final approach is the Deep Learning approach using multi-modal data that combines image , genetic data and patient data using deep models and then uses the concatenated data to detect the AD stage more efficiently; this method is obscure as it requires huge volumes of data. This paper elaborates on all the three approaches and provides a comparative study about them and which method is more efficient for AD detection. Keywords: Alzheimer’s Disease (AD), Fuzzy System , Machine Learning , Deep Learning , Multimodal data


2021 ◽  
Author(s):  
Abhibhav Sharma ◽  
Pinki Dey

AbstractAlzheimer’s disease (AD) is a progressive neurodegenerative disorder whose aetiology is currently unknown. Although numerous studies have attempted to identify the genetic risk factor(s) of AD, the interpretability and/or the prediction accuracies achieved by these studies remained unsatisfactory, reducing their clinical significance. Here, we employ the ensemble of random-forest and regularized regression model (LASSO) to the AD-associated microarray datasets from four brain regions - Prefrontal cortex, Middle temporal gyrus, Hippocampus, and Entorhinal cortex- to discover novel genetic biomarkers through a machine learning-based feature-selection classification scheme. The proposed scheme unrevealed the most optimum and biologically significant classifiers within each brain region, which achieved by far the highest prediction accuracy of AD in 5-fold cross-validation (99% average). Interestingly, along with the novel and prominent biomarkers including CORO1C, SLC25A46, RAE1, ANKIB1, CRLF3, PDYN, numerous non-coding RNA genes were also observed as discriminator, of which AK057435 and BC037880 are uncharacterized long non-coding RNA genes.


PeerJ ◽  
2021 ◽  
Vol 9 ◽  
pp. e10549
Author(s):  
Qi Li ◽  
Mary Qu Yang

Alzheimer’s disease (AD) is a progressive neurodegenerative disorder, accounting for nearly 60% of all dementia cases. The occurrence of the disease has been increasing rapidly in recent years. Presently about 46.8 million individuals suffer from AD worldwide. The current absence of effective treatment to reverse or stop AD progression highlights the importance of disease prevention and early diagnosis. Brain structural Magnetic Resonance Imaging (MRI) has been widely used for AD detection as it can display morphometric differences and cerebral structural changes. In this study, we built three machine learning-based MRI data classifiers to predict AD and infer the brain regions that contribute to disease development and progression. We then systematically compared the three distinct classifiers, which were constructed based on Support Vector Machine (SVM), 3D Very Deep Convolutional Network (VGGNet) and 3D Deep Residual Network (ResNet), respectively. To improve the performance of the deep learning classifiers, we applied a transfer learning strategy. The weights of a pre-trained model were transferred and adopted as the initial weights of our models. Transferring the learned features significantly reduced training time and increased network efficiency. The classification accuracy for AD subjects from elderly control subjects was 90%, 95%, and 95% for the SVM, VGGNet and ResNet classifiers, respectively. Gradient-weighted Class Activation Mapping (Grad-CAM) was employed to show discriminative regions that contributed most to the AD classification by utilizing the learned spatial information of the 3D-VGGNet and 3D-ResNet models. The resulted maps consistently highlighted several disease-associated brain regions, particularly the cerebellum which is a relatively neglected brain region in the present AD study. Overall, our comparisons suggested that the ResNet model provided the best classification performance as well as more accurate localization of disease-associated regions in the brain compared to the other two approaches.


2019 ◽  
Vol 8 (3) ◽  
pp. 3123-3131

In this modern era neurodegenerative disorder of undefined causes affects the older adults and it becomes most cause of dementia. The Alzheimer’s disease is one of such neurodegenerative disorder which is very complex and hard to predict in the early stage. With evolving advancement in the field of machine learning, it is possible to predict the early stage of AD and diagnosing in initial stages may produce effect result for their further quality and healthy life. But uncertainty in determination of Alzheimer’s is a toughest challenge for the researchers in the field of machine learning. This paper aims to overcome the uncertainty in discovering dementia and non-dementia victims of Alzheimer’s by devising an improved reasoning with uncertainty based prominent feature subset selection using modified fuzzy dempster shafer theory (IRU-DST). For Alzheimer’s disease prediction the dataset is used form OASIS dataset. The performance of the proposed IRU-DST is validated using fuzzy artificial neural network. The simulation results proved the performance of the IRU-DST achieves better results comparing the other sate of arts, by gaining high accuracy rate and it also minimize the error rate considerably with the ability of handling uncertainty.


2021 ◽  
Vol 12 ◽  
Author(s):  
Bradley Monk ◽  
Andrei Rajkovic ◽  
Semar Petrus ◽  
Aleks Rajkovic ◽  
Terry Gaasterland ◽  
...  

There is hope that genomic information will assist prediction, treatment, and understanding of Alzheimer’s disease (AD). Here, using exome data from ∼10,000 individuals, we explore machine learning neural network (NN) methods to estimate the impact of SNPs (i.e., genetic variants) on AD risk. We develop an NN-based method (netSNP) that identifies hundreds of novel potentially protective or at-risk AD-associated SNPs (along with an effect measure); the majority with frequency under 0.01. For case individuals, the number of “protective” (or “at-risk”) netSNP-identified SNPs in their genome correlates positively (or inversely) with their age of AD diagnosis and inversely (or positively) with autopsy neuropathology. The effect measure increases correlations. Simulations suggest our results are not due to genetic linkage, overfitting, or bias introduced by netSNP. These findings suggest that netSNP can identify SNPs associated with AD pathophysiology that may assist with the diagnosis and mechanistic understanding of the disease.


2020 ◽  
Vol 9 (7) ◽  
pp. 2146
Author(s):  
Gopi Battineni ◽  
Nalini Chintalapudi ◽  
Francesco Amenta ◽  
Enea Traini

Increasing evidence suggests the utility of magnetic resonance imaging (MRI) as an important technique for the diagnosis of Alzheimer’s disease (AD) and for predicting the onset of this neurodegenerative disorder. In this study, we present a sophisticated machine learning (ML) model of great accuracy to diagnose the early stages of AD. A total of 373 MRI tests belonging to 150 subjects (age ≥ 60) were examined and analyzed in parallel with fourteen distinct features related to standard AD diagnosis. Four ML models, such as naive Bayes (NB), artificial neural networks (ANN), K-nearest neighbor (KNN), and support-vector machines (SVM), and the receiver operating characteristic (ROC) curve metric were used to validate the model performance. Each model evaluation was done in three independent experiments. In the first experiment, a manual feature selection was used for model training, and ANN generated the highest accuracy in terms of ROC (0.812). In the second experiment, automatic feature selection was conducted by wrapping methods, and the NB achieved the highest ROC of 0.942. The last experiment consisted of an ensemble or hybrid modeling developed to combine the four models. This approach resulted in an improved accuracy ROC of 0.991. We conclude that the involvement of ensemble modeling, coupled with selective features, can predict with better accuracy the development of AD at an early stage.


2021 ◽  
Author(s):  
Taeho Jo ◽  
Kwangsik Nho ◽  
Paula Bice ◽  
Andrew J Saykin

Deep learning is a promising tool that uses nonlinear transformations to extract features from high-dimensional data. Although deep learning has been used in several genetic studies, it is challenging in genome-wide association studies (GWAS) with high-dimensional genomic data. Here we propose a novel three-step approach for identification of genetic variants using deep learning to identify phenotype-related single nucleotide polymorphisms (SNPs) and develop accurate classification models. In the first step, we divided the whole genome into non-overlapping fragments of an optimal size and then ran Convolutional Neural Network (CNN) on each fragment to select phenotype-associated fragments. In the second step, using an overlapping window approach, we ran CNN on the selected fragments to calculate phenotype influence scores (PIS) and identify phenotype-associated SNPs based on PIS. In the third step, we ran CNN on all identified SNPs to develop a classification model. We tested our approach using genome-wide genotyping data for Alzheimer's disease (AD) (N=981; cognitively normal older adults (CN) =650 and AD=331). Our approach identified the well-known APOE region as the most significant genetic locus for AD. Our classification model achieved an area under the curve (AUC) of 0.82, which outperformed traditional machine learning approaches, Random Forest and XGBoost. By using a novel deep learning-based GWAS approach, we were able to identify AD-associated SNPs and develop a better classification model for AD.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Rosita Shishegar ◽  
Timothy Cox ◽  
David Rolls ◽  
Pierrick Bourgeat ◽  
Vincent Doré ◽  
...  

AbstractTo improve understanding of Alzheimer’s disease, large observational studies are needed to increase power for more nuanced analyses. Combining data across existing observational studies represents one solution. However, the disparity of such datasets makes this a non-trivial task. Here, a machine learning approach was applied to impute longitudinal neuropsychological test scores across two observational studies, namely the Australian Imaging, Biomarkers and Lifestyle Study (AIBL) and the Alzheimer's Disease Neuroimaging Initiative (ADNI) providing an overall harmonised dataset. MissForest, a machine learning algorithm, capitalises on the underlying structure and relationships of data to impute test scores not measured in one study aligning it to the other study. Results demonstrated that simulated missing values from one dataset could be accurately imputed, and that imputation of actual missing data in one dataset showed comparable discrimination (p < 0.001) for clinical classification to measured data in the other dataset. Further, the increased power of the overall harmonised dataset was demonstrated by observing a significant association between CVLT-II test scores (imputed for ADNI) with PET Amyloid-β in MCI APOE-ε4 homozygotes in the imputed data (N = 65) but not for the original AIBL dataset (N = 11). These results suggest that MissForest can provide a practical solution for data harmonization using imputation across studies to improve power for more nuanced analyses.


2018 ◽  
pp. 1-3
Author(s):  
C. Gussago ◽  
M. Casati ◽  
E. Ferri ◽  
B. Arosio

Alzheimer’s disease (AD) is a common neurodegenerative disorder, strongly related with age. It has been reported that genetic variants of the Triggering Receptor Expressed on Myeloid Cells-2 (TREM2), a cell-surface receptor expressed in microglial cells, greatly increase the risk of AD, thus suggesting an involvement of the microglia in the AD pathogenesis. The aim of this report is to provide an overview of the TREM2 and of its possible implication in the pathogenesis of AD.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jack Cheng ◽  
Hsin-Ping Liu ◽  
Wei-Yong Lin ◽  
Fuu-Jen Tsai

AbstractAlzheimer’s disease (AD) is a neurodegenerative disorder causing 70% of dementia cases. However, the mechanism of disease development is still elusive. Despite the availability of a wide range of biological data, a comprehensive understanding of AD's mechanism from machine learning (ML) is so far unrealized, majorly due to the lack of needed data density. To harness the AD mechanism's knowledge from the expression profiles of postmortem prefrontal cortex samples of 310 AD and 157 controls, we used seven predictive operators or combinations of RapidMiner Studio operators to establish predictive models from the input matrix and to assign a weight to each attribute. Besides, conventional fold-change methods were also applied as controls. The identified genes were further submitted to enrichment analysis for KEGG pathways. The average accuracy of ML models ranges from 86.30% to 91.22%. The overlap ratio of the identified genes between ML and conventional methods ranges from 19.7% to 21.3%. ML exclusively identified oxidative phosphorylation genes in the AD pathway. Our results highlighted the deficiency of oxidative phosphorylation in AD and suggest that ML should be considered as complementary to the conventional fold-change methods in transcriptome studies.


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