Article
Clinical Neurology
David Baez-Nieto, Andrew Allen, Seth Akers-Campbell, Lingling Yang, Nikita Budnik, Amaury Pupo, Young-Cheul Shin, Giulio Genovese, Maofu Liao, Eduardo Perez-Palma, Henrike Heyne, Dennis Lal, Diane Lipscombe, Jen Q. Pan
Summary: This study characterized the functional effects of CACNA1I variants in a Swedish schizophrenia cohort and found that rare variants from schizophrenia patients mainly alter the activation of the Ca(V)3.3 channel by voltage, whereas variants from control subjects are typically associated with reduced Ca(V)3.3 protein expression.
Article
Psychiatry
Shangzhong Li, Lynn E. DeLisi, Stefan McDonough
Summary: An extensive study analyzed whole genome sequences of 61 affected individuals from 15 families, revealing that most schizophrenia polygenic risk scores fell within the control range, while very rare damaging variants in certain candidate disease-related genes were found in six families, indicating their potential contributions to the heritability of schizophrenia.
PSYCHIATRY RESEARCH
(2021)
Article
Genetics & Heredity
Margaret A. A. Hojlo, Merhawi Ghebrelul, Casie A. A. Genetti, Richard Smith, Shira Rockowitz, Emma Deaso, Alan H. H. Beggs, Pankaj B. B. Agrawal, David C. C. Glahn, Joseph Gonzalez-Heydrich, Catherine A. A. Brownstein
Summary: Children and adolescents with early-onset psychosis have more rare genetic variants, and this study found an increased burden of rare variants in the GRIN2A gene in individuals with early-onset psychosis compared to controls. GRIN2A variants have been associated with various neuropsychiatric disorders, highlighting its role in early-onset psychosis.
Article
Neurosciences
Mathew Halvorsen, Jack Samuels, Ying Wang, Benjamin D. Greenberg, Abby J. Fyer, James T. McCracken, Daniel A. Geller, James A. Knowles, Anthony W. Zoghbi, Tess D. Pottinger, Marco A. Grados, Mark A. Riddle, O. Joseph Bienvenu, Paul S. Nestadt, Janice Krasnow, Fernando S. Goes, Brion Maher, Gerald Nestadt, David B. Goldstein
Summary: An analysis of the largest exome sequencing dataset of individuals with obsessive-compulsive disorder reveals that rare damaging coding variants play a role in disease risk, as supported by both case-control and de novo variant studies. This study provides insights into the genetic factors contributing to OCD and highlights the significance of rare coding variants in its development.
NATURE NEUROSCIENCE
(2021)
Article
Genetics & Heredity
Yingzhou Wu, Roujia Li, Song Sun, Jochen Weile, Frederick P. Roth
Summary: The study introduces a new method called VARITY, which uses a larger training example pool to improve the accuracy of computational systems in assessing pathogenicity of rare human variants, and excludes features informed by variant annotation and protein identity to reduce bias. VARITY outperformed previous computational methods in identifying pathogenic variants.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Psychiatry
Tzuyao Lo, Itaru Kushima, Branko Aleksic, Hidekazu Kato, Yoshihiro Nawa, Yu Hayashi, Gantsooj Otgonbayar, Hiroki Kimura, Yuko Arioka, Daisuke Mori, Norio Ozaki
Summary: Chromatin remodelling is an important process in neural development and is related to the genetic aetiology of autism spectrum disorder (ASD) and schizophrenia (SCZ) in the Japanese population. Our case-control study found significant enrichment of rare missense variants in BAF genes in ASD, but not in SCZ. These variants, located in disordered binding regions, may disrupt protein-protein interactions and increase the risk for ASD and SCZ.
INTERNATIONAL REVIEW OF PSYCHIATRY
(2022)
Article
Respiratory System
Yichuan Liu, Hui-Qi Qu, Jingchun Qu, Xiao Chang, Frank D. Mentch, Kenny Nguyen, Lifeng Tian, Joseph Glessner, Patrick M. A. Sleiman, Hakon Hakonarson
Summary: This study investigates the genetic heterogeneity between obese and non-obese asthma in African American patients, highlighting the associations of specific genes with each subtype.
RESPIRATORY RESEARCH
(2022)
Article
Endocrinology & Metabolism
Angela Delaney, Adam B. Burkholder, Christopher A. Lavender, Lacey Plummer, Veronica Mericq, Paulina M. Merino, Richard Quinton, Katie L. Lewis, Brooke N. Meader, Alessandro Albano, Natalie D. Shaw, Corrine K. Welt, Kathryn A. Martin, Stephanie B. Seminara, Leslie G. Biesecker, Joan E. Bailey-Wilson, Janet E. Hall
Summary: The study showed that women with HA have a greater burden of RSVs in IHH-related genes, suggesting that genetic variations associated with gonadotropin-releasing hormone neuronal ontogeny and function may be a major determinant of individual susceptibility to developing HA.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Biology
S. Udhaya Kumar, Ambritha Balasundaram, R. Hephzibah Cathryn, Rinku Polachirakkal Varghese, R. Siva, R. Gnanasambandan, Salma Younes, Hatem Zayed, George Priya Doss
Summary: This study identifies highly pathogenic variants associated with non-small-cell lung cancer (NSCLC) and investigates their contributions to the pathogenesis of NSCLC. The findings shed light on the potential applications of precision medicine in NSCLC patients.
COMPUTERS IN BIOLOGY AND MEDICINE
(2022)
Article
Hematology
Rachel J. Stapley, Natalie S. Poulter, Abdullah O. Khan, Christopher W. Smith, Patricia Bignell, Carl Fratter, Will Lester, Gillian Lowe, Neil Morgan
Summary: The study identified rare conserved missense variants in TPM4 gene in 3 patients, leading to platelet function defects. The research highlights the importance of including TPM4 in diagnostic genetic screening for patients with significant bleeding and undiagnosed platelet disorders.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Medicine, General & Internal
Sana Amanat, Alvaro Gallego-Martinez, Joseph Sollini, Patricia Perez-Carpena, Juan M. Espinosa-Sanchez, Ismael Aran, Andres Soto-Varela, Angel Batuecas-Caletrio, Barbara Canlon, Patrick May, Christopher R. Cederroth, Jose A. Lopez-Escamez
Summary: The study identified specific rare genetic variants associated with severe tinnitus, particularly in genes such as PRUNE2, AKAP9, SORBS1, ITGAX, ANK2, KIF20B, and TSC2. These variants play important roles in biological processes such as membrane trafficking and cytoskeletal protein binding in neurons.
Article
Biochemistry & Molecular Biology
Elmo Christian Saarentaus, Aki Samuli Havulinna, Nina Mars, Ari Ahola-Olli, Tuomo Tapio Johannes Kiiskinen, Juulia Partanen, Sanni Ruotsalainen, Mitja Kurki, Lea Martta Urpa, Lei Chen, Markus Perola, Veikko Salomaa, Juha Veijola, Minna Mannikko, Ira M. Hall, Olli Pietilainen, Jaakko Kaprio, Samuli Ripatti, Mark Daly, Aarno Palotie
Summary: The study compared the impact of CNVs carriers and non-carriers on health, cognition, and socioeconomic factors, finding that high-risk CNVs carriers have lower educational attainment and household income. PRS for intelligence and schizophrenia affect these traits, while CNVs have a smaller impact.
MOLECULAR PSYCHIATRY
(2021)
Article
Medicine, Research & Experimental
Ingrid Fricke-Galindo, Blanca E. Perez-Aldana, Luis R. Macias-Kauffer, Susana Gonzalez-Arredondo, David Davila-Ortiz De Montellano, Carlos L. Avina-Cervantes, Marisol Lopez-Lopez, Yaneth Rodriguez-Agudelo, Nancy Monroy-Jaramillo
Summary: This study evaluated the association of genetic variants in COMT, PRODH, and DISC1 with cognitive performance in Mexican-Mestizo adult patients with schizophrenia. The results showed that COMT rs4633 was related to overall cognitive assessment, while PRODH rs2870984 was associated with processing speed, working memory, verbal learning, and social cognition.
ARCHIVES OF MEDICAL RESEARCH
(2022)
Article
Clinical Neurology
Jaeyoon Chung, Graham Hamilton, Minsup Kim, Sandro Marini, Bailey Montgomery, Jonathan Henry, Art E. Cho, Devin L. Brown, Bradford B. Worrall, James F. Meschia, Scott L. Silliman, Magdy Selim, David L. Tirschwell, Chelsea S. Kidwell, Brett Kissela, Steven M. Greenberg, Anand Viswanathan, Joshua N. Goldstein, Carl D. Langefeld, Kristiina Rannikmae, Catherine Lm Sudlow, Neshika Samarasekera, Mark Rodrigues, Rustam Al-Shahi Salman, James G. D. Prendergast, Sarah E. Harris, Ian Deary, Daniel Woo, Jonathan Rosand, Tom Van Agtmael, Christopher D. Anderson
Summary: Rare missense variants in COL4A1 and COL4A2 were identified in association with sporadic ICH, with predicted high functionality, suggesting they may be potential targets for further translational research.
Article
Multidisciplinary Sciences
Malte Zorn, Jirko Kuehnisch, Sebastian Bachmann, Wenke Seifert
Summary: This study investigated the pathogenic effect of missense variants in the VPS13B gene on Cohen syndrome through clinical patient information, in silico predictions, and in vitro testing. The study found that 6 out of 10 missense variants were likely pathogenic, providing insights into the pathomechanisms of Cohen syndrome.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Kridsadakorn Chaichoompu, Fentaw Abegaz, Bruno Cavadas, Veronica Fernandes, Bertram Mueller-Myhsok, Luisa Pereira, Kristel Van Steen
Article
Cell Biology
Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Bjorn Menten, Alfredo Duenas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere
Summary: Inactivating and missense variants in the centrosomal CEP78 gene have been identified in CRDHL, along with a complex structural variant implicating CEP78. By using various sequencing and PCR techniques, researchers have characterized different SVs affecting CEP78 in individuals with CRDHL, demonstrating the importance of SV analysis in understanding the genetic basis of this rare retinal disease. Additionally, molecular consequences of these SVs on CEP78 expression were assessed, revealing potential mechanisms underlying CRDHL and highlighting the power of genome sequencing technologies in studying complex SVs in ocular diseases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Alexander Neumann, Fahri Kucukali, Isabelle Bos, Stephanie J. B. Vos, Sebastiaan Engelborghs, Tim De Pooter, Geert Joris, Peter De Rijk, Ellen De Roeck, Magda Tsolaki, Frans Verhey, Pablo Martinez-Lage, Mikel Tainta, Giovanni Frisoni, Oliver Blin, Jill Richardson, Regis Bordet, Philip Scheltens, Julius Popp, Gwendoline Peyratout, Peter Johannsen, Lutz Froelich, Rik Vandenberghe, Yvonne Freund-Levi, Johannes Streffer, Simon Lovestone, Cristina Legido-Quigley, Mara ten Kate, Frederik Barkhof, Mojca Strazisar, Henrik Zetterberg, Lars Bertram, Pieter Jelle Visser, Christine van Broeckhoven, Kristel Sleegers
Summary: In this study, rare variants in certain genes were found to be associated with Alzheimer's disease biomarkers. Four genes were associated with neuronal injury and inflammation, potentially increasing the risk of dementia by altering cytoskeleton structure and immune activity disinhibition. Two genes were associated with synaptic functioning, but had no consequential effect on AD development.
MOLECULAR PSYCHIATRY
(2022)
Article
Biology
Diane Duroux, Hector Climente-Gonzalez, Chloe-Agathe Azencott, Kristel Van Steen
Summary: The study proposes a multi-step protocol for detecting epistasis at the gene level, which reduces the number of tests performed and provides interpretable interactions while controlling for errors. Applying this protocol to a genome-wide association study dataset on inflammatory bowel disease yields different results, overlapping with known disease characteristics. The proposed pipeline also demonstrates the potential for additional discoveries when incorporating prior biological knowledge into epistasis detection.
Review
Psychiatry
Annelies Falter, Maarten J. A. van den Bossche
Summary: Alzheimer's disease is a neurodegenerative disorder characterized by plaques and tangles. Research suggests that changes in NREM sleep may be linked to both AD pathology and increased risk of developing the disease. Studies indicate that NREM sleep deficiency could potentially be a causal factor in the development of AD, highlighting the importance of understanding the relationship between sleep and Alzheimer's disease.
WORLD JOURNAL OF PSYCHIATRY
(2021)
Article
Neurosciences
Mathieu Vandenbulcke, Laura Van de Vliet, Jiaze Sun, Yun-An Huang, Maarten J. A. Van den Bossche, Stefan Sunaert, Ron Peeters, Qi Zhu, Wim Vanduffel, Beatrice de Gelder, Francois-Laurent De Winter, Jan Van den Stock
Summary: This study investigates the neural integrity of hyperspecialized and domain-general cortical social brain areas in behavioral variant frontotemporal dementia (bvFTD) by using structural and functional magnetic resonance imaging. The results reveal compromised structure and function in hyperspecialized social areas in bvFTD.
Article
Geriatrics & Gerontology
Hannah Davidoff, Laura van den Bulcke, Mathieu Vandenbulcke, Maarten De Vos, Jan van den Stock, Nick Van Helleputte, Chris Van Hoof, Maarten J. A. van den Bossche
Summary: This article describes a multimodal system design aimed at objectively characterizing agitation in dementia patients by using different types of sensors and a custom-made app, in order to improve understanding and prediction of patient behavior and enable timely intervention.
INNOVATION IN AGING
(2022)
Article
Clinical Neurology
Fahri Kucukali, Alexander Neumann, Jasper Van Dongen, Tim De Pooter, Geert Joris, Peter De Rijk, Olena Ohlei, Valerija Dobricic, Isabelle Bos, Stephanie J. B. Vos, Sebastiaan Engelborghs, Ellen De Roeck, Rik Vandenberghe, Silvy Gabel, Karen Meersmans, Magda Tsolaki, Frans Verhey, Pablo Martinez-Lage, Mikel Tainta, Giovanni Frisoni, Oliver Blin, Jill C. Richardson, Regis Bordet, Philip Scheltens, Julius Popp, Gwendoline Peyratout, Peter Johannsen, Lutz Frolich, Yvonne Freund-Levi, Johannes Streffer, Simon Lovestone, Cristina Legido-Quigley, Mara Ten Kate, Frederik Barkhof, Henrik Zetterberg, Lars Bertram, Mojca Strazisar, Pieter Jelle Visser, Christine Van Broeckhoven, Kristel Sleegers
Summary: In this study, the association between rare genetic variation and AD-related biomarker traits was investigated. Several novel gene-trait associations were identified, shedding light on the role of rare coding variation in the pathophysiological processes of AD.
ALZHEIMERS & DEMENTIA
(2022)
Article
Immunology
Ahmed Tawfik, Takahisa Kawaguchi, Meiko Takahashi, Kazuya Setoh, Izumi Yamaguchi, Yasuharu Tabara, Kristel Van Steen, Anavaj Sakuntabhai, Fumihiko Matsuda
Summary: This study investigated the immunogenicity of influenza vaccine in two independent groups. The results showed that a single dose of the vaccine provided equal protection after three months for both annually vaccinated adults and first-time vaccine receivers.
EXPERT REVIEW OF VACCINES
(2023)
Review
Clinical Neurology
Daphne Stam, Simon Rosseel, Francois-Laurent De Winter, Maarten J. A. Van den Bossche, Mathieu Vandenbulcke, Jan Van den Stock
Summary: This study examines deficits in social cognition in frontotemporal dementia (FTD) and Alzheimer's disease (AD) through qualitative synthesis and meta-analysis of facial expression recognition studies. The results show that both FTD and AD are associated with deficits in facial expression recognition, with FTD having more pronounced deficits compared to AD. Overall emotion recognition was most frequently impaired in both disorders, with anger recognition being most affected in FTD and fear recognition in AD. Verbal categorization was the most commonly used task, but matching or intensity rating tasks may be more specific. Studies from Oceania revealed larger deficits, while non-emotional control tasks were more impacted by AD than FTD. These findings highlight the social cognitive phenotype of FTD and AD and suggest the importance of social cognition assessment in late-life neuropsychiatric disorders.
JOURNAL OF NEUROLOGY
(2023)
Article
Behavioral Sciences
Astrid Devulder, Jaiver Macea, Alexandros Kalkanis, Francois-Laurent De Winter, Mathieu Vandenbulcke, Rik Vandenberghe, Dries Testelmans, Maarten J. A. Van Den Bossche, Wim Van Paesschen
Summary: Subclinical epileptiform activity (SEA) and sleep disturbances are frequent in Alzheimer's disease (AD), and they have an important relationship to cognition and potential therapeutic implications. The study found that SEA was three times more prevalent in AD patients, and they also had lower sleep efficacy, longer wake after sleep onset, more awakenings, less REM sleep, and higher indexes for sleep-disordered breathing. These findings suggest a possible connection between SEA and sleep disturbances in AD, which could have diagnostic and therapeutic implications.
BRAIN AND BEHAVIOR
(2023)
Meeting Abstract
Clinical Neurology
Laura Van den Bulcke, Rebecca Vaessens, Maarten Van Den Bossche
Meeting Abstract
Clinical Neurology
Laura Van den Bulcke, Maarten Van den Bossche
Meeting Abstract
Biochemistry & Molecular Biology
Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Bjorn Menten, Alfredo Duenas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Simona Capponi, Nadja Stoeffler, Ellen B. Penney, Karen Gruetz, Sheikh Nizamuddin, Marit W. Vermunt, Bas Castelijns, Cara Fernandez-Cerado, G. Paul Legarda, M. Salvie Velasco-Andrada, Edwin L. Munoz, Mark A. Ang, Cid Czarina E. Diesta, Menno P. Creyghton, Christine Klein, D. Cristopher Bragg, Peter De Rijk, H. T. Marc Timmers
Summary: X-linked dystonia-parkinsonism (XDP) is a monogenic neurodegenerative disorder characterized by a combination of hyperkinetic movements and parkinsonian features. Recent studies have shown that the underlying genetic mechanism of XDP does not involve specific splicing defects in the TAF1 gene, shifting the current paradigm of the disease.
BRAIN COMMUNICATIONS
(2021)