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1. Multi-stream deep learning framework to predict mild cognitive impairment with Rey Complex Figure Test

Author

Park, Junyoung, Seo, Eun Hyun, Kim, Sunjun, Yi, SangHak, Lee, Kun Ho, and Won, Sungho

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Artificial Intelligence
Abstract

Drawing tests like the Rey Complex Figure Test (RCFT) are widely used to assess cognitive functions such as visuospatial skills and memory, making them valuable tools for detecting mild cognitive impairment (MCI). Despite their utility, existing predictive models based on these tests often suffer from limitations like small sample sizes and lack of external validation, which undermine their reliability. We developed a multi-stream deep learning framework that integrates two distinct processing streams: a multi-head self-attention based spatial stream using raw RCFT images and a scoring stream employing a previously developed automated scoring system. Our model was trained on data from 1,740 subjects in the Korean cohort and validated on an external hospital dataset of 222 subjects from Korea. The proposed multi-stream model demonstrated superior performance over baseline models (AUC = 0.872, Accuracy = 0.781) in external validation. The integration of both spatial and scoring streams enables the model to capture intricate visual details from the raw images while also incorporating structured scoring data, which together enhance its ability to detect subtle cognitive impairments. This dual approach not only improves predictive accuracy but also increases the robustness of the model, making it more reliable in diverse clinical settings. Our model has practical implications for clinical settings, where it could serve as a cost-effective tool for early MCI screening., Comment: 20 pages, 3 figures, 2 tables

Published
2024

2. A Quantitatively Interpretable Model for Alzheimer's Disease Prediction Using Deep Counterfactuals

Author

Oh, Kwanseok, Heo, Da-Woon, Mulyadi, Ahmad Wisnu, Jung, Wonsik, Kang, Eunsong, Lee, Kun Ho, and Suk, Heung-Il

Subjects
Computer Science - Artificial Intelligence, Electrical Engineering and Systems Science - Image and Video Processing
Abstract

Deep learning (DL) for predicting Alzheimer's disease (AD) has provided timely intervention in disease progression yet still demands attentive interpretability to explain how their DL models make definitive decisions. Recently, counterfactual reasoning has gained increasing attention in medical research because of its ability to provide a refined visual explanatory map. However, such visual explanatory maps based on visual inspection alone are insufficient unless we intuitively demonstrate their medical or neuroscientific validity via quantitative features. In this study, we synthesize the counterfactual-labeled structural MRIs using our proposed framework and transform it into a gray matter density map to measure its volumetric changes over the parcellated region of interest (ROI). We also devised a lightweight linear classifier to boost the effectiveness of constructed ROIs, promoted quantitative interpretation, and achieved comparable predictive performance to DL methods. Throughout this, our framework produces an ``AD-relatedness index'' for each ROI and offers an intuitive understanding of brain status for an individual patient and across patient groups with respect to AD progression., Comment: 15 pages, 5 figures, 4 tables

Published
2023

5. Multi-ancestry meta-analysis and fine-mapping in Alzheimer’s disease

Author

Lake, Julie, Warly Solsberg, Caroline, Kim, Jonggeol Jeffrey, Acosta-Uribe, Juliana, Makarious, Mary B, Li, Zizheng, Levine, Kristin, Heutink, Peter, Alvarado, Chelsea X, Vitale, Dan, Kang, Sarang, Gim, Jungsoo, Lee, Kun Ho, Pina-Escudero, Stefanie D, Ferrucci, Luigi, Singleton, Andrew B, Blauwendraat, Cornelis, Nalls, Mike A, Yokoyama, Jennifer S, and Leonard, Hampton L

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical and Health Psychology, Clinical Sciences, Psychology, Brain Disorders, Aging, Alzheimer's Disease, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurodegenerative, Human Genome, Genetics, Dementia, Aetiology, 2.1 Biological and endogenous factors, Humans, Genetic Predisposition to Disease, Genome-Wide Association Study, Alzheimer Disease, Genotype, Black or African American, Polymorphism, Single Nucleotide, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

Genome-wide association studies (GWAS) of Alzheimer's disease are predominantly carried out in European ancestry individuals despite the known variation in genetic architecture and disease prevalence across global populations. We leveraged published GWAS summary statistics from European, East Asian, and African American populations, and an additional GWAS from a Caribbean Hispanic population using previously reported genotype data to perform the largest multi-ancestry GWAS meta-analysis of Alzheimer's disease and related dementias to date. This method allowed us to identify two independent novel disease-associated loci on chromosome 3. We also leveraged diverse haplotype structures to fine-map nine loci with a posterior probability >0.8 and globally assessed the heterogeneity of known risk factors across populations. Additionally, we compared the generalizability of multi-ancestry- and single-ancestry-derived polygenic risk scores in a three-way admixed Colombian population. Our findings highlight the importance of multi-ancestry representation in uncovering and understanding putative factors that contribute to risk of Alzheimer's disease and related dementias.

Published
2023

12. Multi-Class Classification of Alzheimer’s Disease Using Frontal Cortex Non-invasive fNIRS

Author

Ho, Thi Kieu Khanh, Kim, Minhee, Garg, Harish, Kim, Byeong C., Lee, Jang Jae, Choi, Kyu Yeong, Kim, Jae Gwan, Lee, Kun Ho, Song, Jong-In, Gwak, Jeonghwan, Magjarevic, Ratko, Series Editor, Ładyżyński, Piotr, Associate Editor, Ibrahim, Fatimah, Associate Editor, Lackovic, Igor, Associate Editor, Rock, Emilio Sacristan, Associate Editor, Van Toi, Vo, editor, Nguyen, Thi-Hiep, editor, Long, Vong Binh, editor, and Huong, Ha Thi Thanh, editor

Published
2022
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18. Multi-Ethnic Norms for Volumes of Subcortical and Lobar Brain Structures Measured by Neuro I: Ethnicity May Improve the Diagnosis of Alzheimer’s Disease1

Author

Choi, Yu Yong, primary, Lee, Jang Jae, additional, te Nijenhuis, Jan, additional, Choi, Kyu Yeong, additional, Park, Jongseong, additional, Ok, Jongmyoung, additional, Choo, IL Han, additional, Kim, Hoowon, additional, Song, Min-Kyung, additional, Choi, Seong-Min, additional, Cho, Soo Hyun, additional, Chae, Youngshik, additional, Kim, Byeong C., additional, and Lee, Kun Ho, additional

Published
2024
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19. Investigation of Cerebral Hemodynamic Changes in Mild Cognitive Impairment Due to Alzheimer’s Disease During a Verbal Fluency Task

Author

Kim, Minhee, Nguyen, Thien, Gwak, Jeonghwan, Lee, Jang Jae, Choi, Kyu Yeong, Lee, Kun Ho, Kim, Jae Gwan, Magjarevic, Ratko, Series Editor, Ładyżyński, Piotr, Associate Editor, Ibrahim, Fatimah, Associate Editor, Lackovic, Igor, Associate Editor, Rock, Emilio Sacristan, Associate Editor, Van Toi, Vo, editor, Le, Trung Quoc, editor, Ngo, Hoan Thanh, editor, and Nguyen, Thi-Hiep, editor

Published
2020
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29. A missense variant in SHARPIN mediates Alzheimer’s disease-specific brain damages

Author

Park, Jun Young, Lee, Dongsoo, Lee, Jang Jae, Gim, Jungsoo, Gunasekaran, Tamil Iniyan, Choi, Kyu Yeong, Kang, Sarang, Do, Ah Ra, Jo, Jinyeon, Park, Juhong, Park, Kyungtaek, Li, Donghe, Lee, Sanghun, Kim, Hoowon, Dhanasingh, Immanuel, Ghosh, Suparna, Keum, Seula, Choi, Jee Hye, Song, Gyun Jee, Sael, Lee, Rhee, Sangmyung, Lovestone, Simon, Kim, Eunae, Moon, Seung Hwan, Kim, Byeong C., Kim, SangYun, Saykin, Andrew J., Nho, Kwangsik, Lee, Sung Haeng, Farrer, Lindsay A., Jun, Gyungah R., Won, Sungho, and Lee, Kun Ho

Published
2021
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33. Multi-Ethnic Norms for Volumes of Subcortical and Lobar Brain Structures Measured by Neuro I: Ethnicity May Improve the Diagnosis of Alzheimer's Disease1.

Author

Choi, Yu Yong, Lee, Jang Jae, te Nijenhuis, Jan, Choi, Kyu Yeong, Park, Jongseong, Ok, Jongmyoung, Choo, IL Han, Kim, Hoowon, Song, Min-Kyung, Choi, Seong-Min, Cho, Soo Hyun, Chae, Youngshik, Kim, Byeong C., and Lee, Kun Ho

Subjects
ALZHEIMER'S disease, BRAIN anatomy, ETHNICITY, MAGNETIC flux density, NEURAL development
Abstract

Background: We previously demonstrated the validity of a regression model that included ethnicity as a novel predictor for predicting normative brain volumes in old age. The model was optimized using brain volumes measured with a standard tool FreeSurfer. Objective: Here we further verified the prediction model using newly estimated brain volumes from Neuro I, a quantitative brain analysis system developed for Korean populations. Methods: Lobar and subcortical volumes were estimated from MRI images of 1,629 normal Korean and 786 Caucasian subjects (age range 59–89) and were predicted in linear regression from ethnicity, age, sex, intracranial volume, magnetic field strength, and scanner manufacturers. Results: In the regression model predicting the new volumes, ethnicity was again a substantial predictor in most regions. Additionally, the model-based z-scores of regions were calculated for 428 AD patients and the matched controls, and then employed for diagnostic classification. When the AD classifier adopted the z-scores adjusted for ethnicity, the diagnostic accuracy has noticeably improved (AUC = 0.85, ΔAUC = + 0.04, D = 4.10, p < 0.001). Conclusions: Our results suggest that the prediction model remains robust across different measurement tool, and ethnicity significantly contributes to the establishment of norms for brain volumes and the development of a diagnostic system for neurodegenerative diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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37. Transferability of a European-derived Alzheimer’s Disease Genetic Risk Score across Multi-Ancestry Populations

Author

Nicolas, Aude, primary, Grenier-Boley, Benjamin, additional, Sherva, Richard, additional, Kim, Yoontae, additional, Kikuchi, Masataka, additional, de Rojas, Itziar, additional, Dalmasso, Carolina, additional, Zhou, Xiaopu, additional, Guen, Yann Le, additional, Arboleda-Bustos, Carlos E, additional, Camargos Bicalho, Maria Aparecida, additional, Guerchet, Maëlenn, additional, van der Lee, Sven, additional, Goss, Monica, additional, Castillo, Atahualpa, additional, Bellenguez, Céline, additional, Küçükali, Fahri, additional, Satizabal Barrera, Claudia, additional, Fongang, Bernard, additional, yang, Qiong, additional, Peters, Oliver, additional, Schneider, Anja, additional, Dichgans, Martin, additional, Rujescu, Dan, additional, Scherbaum, Norbert, additional, Deckert, Jürgen, additional, Riedel-Heller, Steffi, additional, Hausner, Lucrezia, additional, Molina Porcel, Laura, additional, Düzel, Emrah, additional, Grimmer, Timo, additional, Wiltfang, Jens, additional, Heilmann-Heimbach, Stefanie, additional, Moebus, Susanne, additional, Tegos, Thomas, additional, Scarmeas, Nikolaos, additional, Dols-Icardo, Oriol, additional, Moreno, Fermin, additional, Pérez-Tur, Jordi, additional, Bullido, María J., additional, Pastor, Pau, additional, Sánchez-Valle, Raquel, additional, Álvarez, Victoria, additional, Cao, Han, additional, Ip, Nancy Y., additional, Fu, Amy K. Y., additional, Ip, Fanny C. F., additional, Olivar, Natividad, additional, Muchnik, Carolina, additional, Cuesta, Carolina, additional, Campanelli, Lorenzo, additional, Solis, Patricia, additional, Politis, Daniel Gustavo, additional, Kochen, Silvia, additional, Brusco, Luis Ignacio, additional, Boada, Mercè, additional, García-González, Pablo, additional, Puerta, Raquel, additional, Mir, Pablo, additional, Real, Luis M, additional, Piñol-Ripoll, Gerard, additional, María García-Alberca, Jose, additional, Luís Royo, Jose, additional, Rodriguez-Rodriguez, Eloy, additional, Soininen, Hilkka, additional, Heikkinen, Sami, additional, de Mendonça, Alexandre, additional, Mehrabian, Shima, additional, Traykov, Latchezar, additional, Hort, Jakub, additional, Vyhnalek, Martin, additional, Rasmussen, Katrine Laura, additional, Qvist Thomassen, Jesper, additional, Pijnenburg, Yolande A.L., additional, Holstege, Henne, additional, van Swieten, John, additional, Ramakers, Inez, additional, Verhey, Frans, additional, van der Lugt, Aad, additional, Scheltens, Philip, additional, Ortega-Rojas, Jenny, additional, Concha Mera, Ana Gabriela, additional, Mahecha, Maria F., additional, Pardo, Rodrogo, additional, Arboleda, Gonzalo, additional, Graff, Caroline, additional, Papenberg, Goran, additional, Giedraitis, Vilmantas, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Armando de Marco, Luiz, additional, Nunes de Moraes, Edgar, additional, de Viana, Bernardo, additional, Túlio Gualberto Cintra, Marco, additional, Grsiwold, Anthony, additional, Forund, Tatiana, additional, Cruchaga, Carlos, additional, Haines, Jonathan, additional, Farrer, Lindsay, additional, DeStefano, Anita, additional, Wijsman, Ellen, additional, Mayeux, Richard, additional, Pericak-Vance, Margaret, additional, Kunkle, Brian, additional, Goate, Alison, additional, Schellenberg, Gerard D., additional, Vardarajan, Badri, additional, Wang, Li-San, additional, Leung, Yuk Yee, additional, Dalgard, Clifton, additional, Nicolas, Gael, additional, Wallon, David, additional, Dufouil, Carole, additional, Pasquier, Florence, additional, Hanon, Olivier, additional, Debette, Stéphanie, additional, Grünblatt, Edna, additional, Popp, Julius, additional, Angel, Bárbara, additional, Golger, Sergio, additional, Victoria Chacon, Maria, additional, Aranguiz, Rafael, additional, Orellana, Paulina, additional, Slachevsky, Andrea, additional, Gonzalez-Billault, Christian, additional, Albala, Cecilia, additional, Fuentes, Patricio, additional, Porter, Tenielle, additional, Laws, Simon M, additional, Sachdev, Perminder, additional, Mather, Karen, additional, Hauger, Richard L., additional, Merritt, Victoria, additional, Panizzon, Matthew, additional, Zhang, Rui, additional, Gaziano, Michael, additional, Ghidoni, Roberta, additional, Galimberti, Daniela, additional, Arosio, Beatrice, additional, Mecocci, Patrizia, additional, Solfrizzi, Vincenzo, additional, Parnetti, Lucilla, additional, Squassina, Alessio, additional, Tremolizzo, Lucio, additional, Borroni, Barbara, additional, Nacmias, Benedetta, additional, Caffarra, Paolo, additional, Seripa, Davide, additional, Rainero, Innocenzo, additional, Daniele, Antonio, additional, Piras, Fabrizio, additional, Miyashita, Akinori, additional, Hara, Norikazu, additional, Ozaki, Kouichi, additional, Niida, Shumpei, additional, Williams, Julie, additional, Masullo, Carlo, additional, Amouyel, Philippe, additional, Preux, Pierre-Marie, additional, Mbelesso, Pascal, additional, Bandzouzi, Bébène, additional, Saykin, Andy, additional, Jessen, Frank, additional, Kehoe, Patrick, additional, Van Duijn, Cornelia, additional, Gim, Jungsoo, additional, Ben Salem, Nesrine, additional, Frikke-Schmidt, Ruth, additional, Cherni, Lofti, additional, Greicius, Michael D., additional, Tsolaki, Magda, additional, Sánchez-Juan, Pascual, additional, Romano Silva, Marco Aurélio, additional, Sleegers, Kristel, additional, Ingelsson, Martin, additional, Dartigues, Jean-François, additional, Seshadri, Sudha, additional, Rossi, Giacomina, additional, Morelli, Laura, additional, Hiltunen, Mikko, additional, Sims, Rebecca, additional, van der Flier, Wiesje, additional, Andreassen, Ole, additional, Arboleda, Humberto, additional, Escott-Price, Valentina, additional, Ruiz, Agustín, additional, Lee, Kun Ho, additional, Ikeuchi, Takeshi, additional, Ramirez, Alfredo, additional, Logue, Mark, additional, and Lambert, Jean-Charles, additional

Published
2023
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47. Data from SPIN90 Depletion and Microtubule Acetylation Mediate Stromal Fibroblast Activation in Breast Cancer Progression

Author

You, Eunae, primary, Huh, Yun Hyun, primary, Kwon, Ahreum, primary, Kim, So Hee, primary, Chae, In Hee, primary, Lee, Ok-Jun, primary, Ryu, Je-Hwang, primary, Park, Min Ho, primary, Kim, Ga-Eon, primary, Lee, Ji Shin, primary, Lee, Kun Ho, primary, Lee, Yong-Seok, primary, Kim, Jung-Woong, primary, Rhee, Sangmyung, primary, and Song, Woo Keun, primary

Published
2023
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48. Supplementary Figures and Legends from SPIN90 Depletion and Microtubule Acetylation Mediate Stromal Fibroblast Activation in Breast Cancer Progression

Author

You, Eunae, primary, Huh, Yun Hyun, primary, Kwon, Ahreum, primary, Kim, So Hee, primary, Chae, In Hee, primary, Lee, Ok-Jun, primary, Ryu, Je-Hwang, primary, Park, Min Ho, primary, Kim, Ga-Eon, primary, Lee, Ji Shin, primary, Lee, Kun Ho, primary, Lee, Yong-Seok, primary, Kim, Jung-Woong, primary, Rhee, Sangmyung, primary, and Song, Woo Keun, primary

Published
2023
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