Article
Medicine, General & Internal
Yoonjung Yoonie Joo, Seo-Yoon Moon, Hee-Hwan Wang, Hyeonjin Kim, Eun-Ji Lee, Jong Hun Kim, Jonathan Posner, Woo-Young Ahn, Incheol Choi, Jae-Won Kim, Jiook Cha
Summary: Suicide is the second leading cause of death among youths worldwide, and there is currently no available means to identify the risk of suicide in this population. This cohort study aimed to assess the association between genome-wide polygenic scores and the risk of suicide among preadolescent children, as well as to investigate the interaction between early life stress and polygenic factors in relation to suicidal thoughts and behaviors among youths.
Article
Psychology, Clinical
S. C. Andrews, D. R. Langbehn, D. Craufurd, A. Durr, B. R. Leavitt, R. A. Roos, S. J. Tabrizi, J. C. Stout
Summary: The study found that apathy is a predictor of cognitive decline in premanifest HD patients, while motor symptoms severity is a stronger predictor in early diagnosed HD patients. Older age is the only predictor for cognitive decline in healthy control group.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Neurosciences
Rachel L. Kember, Alison K. Merikangas, Shefali S. Verma, Anurag Verma, Renae Judy, Scott M. Damrauer, Marylyn D. Ritchie, Daniel J. Rader, Maja Bucan
Summary: By studying over 10,000 individuals, it was found that PRSs for psychiatric disorders are moderately associated with their primary phenotypes, but lack clinical predictive value in naive patients. Cross-trait associations indicate a broader effect of genetic liability beyond traditional diagnostic boundaries.
BIOLOGICAL PSYCHIATRY
(2021)
Review
Neurosciences
Leanna M. Hernandez, Minsoo Kim, Gil D. Hoftman, Jillian R. Haney, Luis de la Torre-Ubieta, Bogdan Pasaniuc, Michael J. Gandal
Summary: Researchers discuss the opportunities and challenges of high-throughput transcriptomic profiling in the human brain, and how it can help pinpoint mechanisms underlying genetic risk for psychiatric disorders. They propose systematic approaches for integrating different levels of genetics, genomics, and phenomics, including combining spatially resolved gene expression with human neuroimaging maps. Results emphasize the importance of understanding gene expression regulation across human brain development in the pathogenesis of psychiatric diseases.
BIOLOGICAL PSYCHIATRY
(2021)
Article
Pharmacology & Pharmacy
Alvin V. Terry, Keri Jones, Daniel Bertrand
Summary: Neuronal nicotinic acetylcholine receptors (nAChRs) are widely distributed in the mammalian brain and play important roles in regulating neuronal excitability and neurotransmitter release. Abnormalities in nAChRs have been implicated in various neurological and psychiatric disorders. Despite the potential therapeutic potential, only smoking cessation and the treatment of dry eye disease are currently approved indications for nAChR ligands.
PHARMACOLOGICAL RESEARCH
(2023)
Article
Clinical Neurology
Kai Yao, Tracey van der Veen, Johan Thygesen, Nick Bass, Andrew Mcquillin
Summary: This study explores the interaction between adverse childhood experiences and genetic risk for bipolar disorder and its impact on symptom outcomes. The findings emphasize the importance of considering multiple psychiatric polygenic risk scores in predicting symptom outcomes among bipolar disorder patients.
JOURNAL OF AFFECTIVE DISORDERS
(2023)
Article
Immunology
Michael D. E. Sewell, Lorena Jimenez-Sanchez, Xueyi Shen, Amelia J. Edmondson-Stait, Claire Green, Mark J. Adams, Olivia M. Rifai, Andrew M. McIntosh, Donald M. Lyall, Heather C. Whalley, Stephen M. Lawrie
Summary: Major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD) share both common and distinct genetic risk factors, which are associated with peripheral abnormalities. Peripheral markers associated with these disorders are both shared and disorder-specific, suggesting potential underlying pathophysiological mechanisms in major psychiatric disorders.
BRAIN BEHAVIOR AND IMMUNITY
(2021)
Article
Psychology, Clinical
Igor Nenadic, Tina Meller, Simon Schmitt, Frederike Stein, Katharina Brosch, Johannes Mosebach, Ulrich Ettinger, Phillip Grant, Susanne Meinert, Nils Opel, Hannah Lemke, Stella Fingas, Katharina Foerster, Tim Hahn, Andreas Jansen, Till F. M. Andlauer, Andreas J. Forstner, Stefanie Heilmann-Heimbach, Alisha S. M. Hall, Swapnil Awasthi, Stephan Ripke, Stephanie H. Witt, Marcella Rietschel, Bertram Mueller-Myhsok, Markus M. Noethen, Udo Dannlowski, Axel Krug, Fabian Streit, Tilo Kircher
Summary: This study found that schizotypy may share less genetic risk with schizophrenia and is not significantly associated with the genetic risk of affective disorders.
PSYCHOLOGICAL MEDICINE
(2022)
Article
Psychology, Clinical
Alex G. Segura, Gisela Mezquida, Albert Martinez-Pinteno, Patricia Gasso, Natalia Rodriguez, Lucia Moreno-Izco, Silvia Amoretti, Miquel Bioque, Antonio Lobo, Ana Gonzalez-Pinto, Alicia Garcia-Alcon, Alexandra Roldan-Bejarano, Eduard Vieta, Elena de la Serna, Alba Toll, Manuel J. Cuesta, Sergi Mas, Miquel Bernardo
Summary: Early intervention is crucial for preventing the progression of psychotic disorders. This study found that genetic susceptibility related to cognitive performance is associated with an increased risk of first-episode psychosis (FEP) and its clinical and cognitive progression. Additionally, genetic susceptibility for depression is associated with a worsening trajectory of executive function and general cognitive status.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Psychiatry
Daniel Braun, Jens Schlossmann, Ekkehard Haen
Summary: In patients with various psychiatric diseases, elevated serum concentrations of ADMA were found, suggesting its involvement in the pathophysiology of these disorders.
PSYCHIATRY RESEARCH
(2021)
Article
Psychology, Clinical
Kenneth S. Kendler, Henrik Ohlsson, Jan Sundquist, Kristina Sundquist
Summary: Although creative occupations are associated with an increased genetic risk for various psychiatric disorders, religious, helping, and teaching professions also have similar or even greater elevations in risk. This association is stronger for internalizing disorders rather than psychotic disorders.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Psychiatry
Zhi Cao, Hongxi Yang, Yixuan Ye, Yuan Zhang, Shu Li, Hongyu Zhao, Yaogang Wang
Summary: Genetic factors and lifestyle factors were both independently associated with the risk of depression, and adherence to healthy lifestyles may lower the risk of depression regardless of genetic risk.
TRANSLATIONAL PSYCHIATRY
(2021)
Review
Clinical Neurology
Shih-Jen Tsai
Summary: Low grade neuroinflammation, particularly involving interleukin-8 (IL-8), has been suggested as an underlying mechanism for various psychiatric diseases and cognitive disorders. Elevated peripheral levels of IL-8 have been reported in conditions such as schizophrenia, bipolar disorder, obstructive sleep apnea, and autism spectrum disorder. However, the exact role of IL-8 in major depression remains inconsistent in the literature.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2021)
Article
Clinical Neurology
Claudia Schilling, Lea Zillich, Michael Schredl, Josef Frank, Emanuel Schwarz, Michael Deuschle, Andreas Meyer-Lindenberg, Marcella Rietschel, Stephanie H. Witt, Fabian Streit
Summary: Cognitive impairment is a common feature in schizophrenia. This study found a positive association between a polygenic score for schizophrenia and fast sleep spindle density. This suggests that there is a genetic background for cognitive outcome in schizophrenia.
EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE
(2022)
Article
Neurosciences
Laramie Duncan, Hanyang Shen, Anton Schulmann, Tayden Li, Bhaskar Kolachana, Ajeet Mandal, Ningping Feng, Pavan Auluck, Stefano Marenco
Summary: The development of 'omics technologies has brought about a new era in human postmortem tissue research, allowing for detailed measurement of genes, proteins, and spatial parameters. This study focuses on the clinical, educational, and brain gene expression correlates of polygenic scores in ancestrally diverse samples. The findings highlight the importance of understanding genetic risk and gene expression in psychiatric disorders, and provide valuable resources for future research.
NEUROPSYCHOPHARMACOLOGY
(2023)
Article
Neurosciences
Gail I. S. Harmata, Aubrey C. Chan, Madison J. Merfeld, Rebecca J. Taugher-Hebl, Anjit K. Harijan, Jason B. Hardie, Rong Fan, Jeffrey D. Long, Grace Z. Wang, Brian J. Dlouhy, Amal K. Bera, Nandakumar S. Narayanan, John A. Wemmie
Summary: Individuals differ in their sensitivity to acute alcohol intoxication, and alcohol effects are complex and may be related to acid-sensing ion channels (ASICs). This study found that ASIC1A plays a role in the intoxicating effects of alcohol, and its absence affects the electrophysiological responses and behavior. These findings suggest that ASICs might contribute to the intoxicating effects of alcohol and AUD in humans.
NEUROPSYCHOPHARMACOLOGY
(2023)
Article
Clinical Neurology
Tomas Kouba, Wiebke Frank, Tereza Tykalova, Alzbeta Muehlbaeck, Jiri Klempir, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Jan Rusz
Summary: This study examined speech alterations in patients with Huntington's disease (HD) using objective acoustic analysis. The results showed that these speech alterations were associated with other motor and cognitive deficits. The study also found that acoustic analysis can reliably detect speech alterations in the early stages of HD.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Neurosciences
Zachary A. A. Stoebner, Kilian Hett, Ilwoo Lyu, Hans Johnson, Jane S. S. Paulsen, Jeffrey D. D. Long, Ipek Oguz
Summary: In addition to the striatum, cortical alterations caused by Huntington's disease have been found, but there is inconsistency in using cortical thickness as a metric. This study proposes a comprehensive approach using cortical thickness, sulcal depth, and local gyrification index, and the results are consistent with prior findings while highlighting the complementary nature of these measures.
HUMAN BRAIN MAPPING
(2023)
Review
Clinical Neurology
Pearl J. C. van Lonkhuizen, Wiebke Frank, Anne-Wil Heemskerk, Erik van Duijn, Susanne de Bot, Alzbeta Muehlbaeck, G. Bernhard Landwehrmeyer, Niels Chavannes, Eline Meijer
Summary: This systematic review examined self-reported health-related quality of life (HRQoL) in individuals with Huntington's disease, and identified factors and interventions associated with HRQoL. The findings suggest that individuals with Huntington's disease have lower HRQoL and several factors contribute to this, including depressive symptoms and lower support. Multidisciplinary rehabilitation programs and respiratory muscle training are beneficial for improving HRQoL.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Anna C. Pfalzer, Kelly H. Watson, Abagail E. Ciriegio, Lisa Hale, Spencer Diehl, Katherine E. McDonell, Cindy Vnencak-Jones, Elizabeth Huitz, Abigail Snow, Marissa C. Roth, Cara S. Guthrie, Heather Riordan, Jeffrey D. Long, Bruce E. Compas, Daniel O. Claassen
Summary: This study provides strong evidence that impairments in executive function occur as early as the second decade of life in individuals with Huntington disease, well before the anticipated motor onset.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Genetics & Heredity
Jeffrey D. D. Long, Michael P. Gehlsen, Joanna Moody, Gracie Weeks, Robert Philibert
Summary: We analyzed data from the National Lung Screening Trial (NLST) to determine the predictive ability of gender, body mass index (BMI), marital status, and race on smoking behavior, with emphasis on gender interactions. The final selected variables for the prediction model were BMI, gender, BMI by gender, age, divorced (vs. married), education, and race.
Article
Clinical Neurology
Jinnie Ko, Hannah Furby, Xiaoye Ma, Jeffrey D. Long, Xiao-Yu Lu, Diana Slowiejko, Rita Gandhy
Summary: Huntington's disease is a rare neurodegenerative disorder characterized by progressive cognitive, behavioral, and motor symptoms. A retrospective study identified three clusters of disease progression: rapid, moderate, and slow progressors. Predictive features of disease trajectory include age, polyglutamine repeat length, years since symptom onset, and medical history.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Alzbeta Muehlbaeck, Josef Mana, Michael Wallner, Wiebke S. Frank, Katrin Lindenberg, Rainer Hoffmann, Olga Klempirova, Jiri Klempir, G. Bernhard Landwehrmeyer, Ondrej Bezdicek
Summary: The study aims to provide appropriate normative data to help clinicians identify disease-associated cognitive decline in diverse HD populations by considering confounding factors such as language, gender, age, and education level.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Jamie L. Hamilton, James A. Mills, Glenn T. Stebbins, Jeffrey D. Long, Rebecca L. M. Fuller, Swati Sathe, Matt Roche, Cristina Sampaio
Summary: This study aims to estimate the minimal clinically important difference (MCID) for clinically relevant outcome measures in individuals with Stages 2 or 3 Huntington's disease. By analyzing data from a large global longitudinal study, the study found that MCID estimates increased with disease progression and longer time frames. These estimates can improve the clinical interpretation of study outcomes and support clinical decision-making and trial methodology.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Timothy R. Koscik, Ellen van der Plas, Jeffrey D. Long, Stephen Cross, Laurie Gutmann, Sarah A. Cumming, Darren G. Monckton, Richard K. Shields, Vincent Magnotta, Peggy C. Nopoulos
Summary: This study compared the changes in white matter microstructure, functional measures, and clinical symptoms in patients with myotonic dystrophy type 1. The results showed that indices of white matter health were associated with functional performance and could accurately reflect disease progression. These findings are crucial for the design of clinical trials.
NEUROMUSCULAR DISORDERS
(2023)
Article
Behavioral Sciences
Carlos Estevez-Fraga, Michael S. Elmalem, Marina Papoutsi, Alexandra Durr, Elin M. Rees, Nicola Z. Hobbs, Raymund A. C. Roos, Bernhard Landwehrmeyer, Blair R. Leavitt, Douglas R. Langbehn, Rachael I. Scahill, Geraint Rees, Sarah J. Tabrizi, Sarah Gregory
Summary: This study investigated the longitudinal changes in white matter microstructure in Huntington's disease and found significant alterations in larger white matter areas as the disease progressed, indicating a progressive deterioration of white matter microstructure with disease evolution.
BRAIN AND BEHAVIOR
(2023)
Article
Psychiatry
Arshaq Saleem, Gail Harmata, Shivangi Jain, Michelle W. W. Voss, Jess G. G. Fiedorowicz, Aislinn J. J. Williams, Joseph J. J. Shaffer, Jenny Gringer Richards, Ercole John Barsotti, Leela Sathyaputri, Samantha L. L. Schmitz, Gary E. E. Christensen, Jeffrey D. D. Long, Jia Xu, John A. A. Wemmie, Vincent A. A. Magnotta
Summary: Studies have shown aberrant functional connectivity between the cerebellar vermis and the cerebrum in bipolar disorder, with potential involvement in motor control and emotion. Past depression symptom burden affects connectivity, while medication has no effect. These findings suggest a compensatory role of the cerebellum in bipolar disorder.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Neurosciences
Jeffrey D. Long, Emily C. Gantman, James A. Mills, Jatin G. Vaidya, Alexandra Mansbach, Sarah J. Tabrizi, Cristina Sampaio
Summary: The study aims to impute the stages of the HD-ISS and define progression subgroups for observational studies with missing data. The results show a good agreement between the imputed and observed stages, although the algorithm tends to over-assign Stage 0 and under-assign Stage 1 for individuals in early progression. The imputed stages can be treated similarly to the observed stages for large-scale analyses. Collapsing the first two stages into Stage <= 1, Stage 2, and Stage 3 can be an alternative when imaging data are not available.
JOURNAL OF HUNTINGTONS DISEASE
(2023)
Article
Clinical Neurology
Gail I. S. Harmata, Ercole John Barsotti, Lucas G. Casten, Jess G. Fiedorowicz, Aislinn Williams, Joseph J. Shaffer, Jenny Gringer Richards, Leela Sathyaputri, Samantha L. Schmitz, Gary E. Christensen, Jeffrey D. Long, Marie E. Gaine, Jia Xu, Jake J. Michaelson, John A. Wemmie, Vincent A. Magnotta
Summary: This study found that the cerebellar cortex is smaller in individuals with bipolar disorder (BD). The study also suggests that external factors, such as sedatives and childhood experiences, may influence cerebellum structure in BD. Future research should consider these variables for consistent findings.
JOURNAL OF AFFECTIVE DISORDERS
(2023)
Proceedings Paper
Computer Science, Artificial Intelligence
Xing Yao, Ange Lou, Hao Li, Dewei Hu, Daiwei Lu, Han Liu, Jiacheng Wang, Zachary Stoebner, Hans Johnson, Jeff D. Long, Jane S. Paulsen, Ipek Oguz
Summary: Medical image harmonization aims to transform image style while preserving anatomical content. Attention mechanism has achieved excellent performance in image-to-image translation. In this study, we explore the potential of using attention mechanism to improve medical image harmonization. Two attention-based frameworks for cross-scanner MRI harmonization are introduced for the first time, and compared with existing frameworks in terms of enhancing downstream subcortical segmentation task. Both qualitative and quantitative results show that attention mechanism contributes to noticeable improvement in harmonization ability.
MEDICAL IMAGING 2023
(2023)
Review
Neurosciences
Maya Jammoul, Dareen Jammoul, Kevin K. Wang, Firas Kobeissy, Ralph G. Depalma
Summary: This article reviews the possible mechanisms by which traumatic brain injury (TBI) may stimulate the development of opioid use disorder (OUD) and discusses the interaction between these two processes. CNS damage due to TBI appears to drive adverse effects of subsequent OUD, with pain being a risk factor for opioid use after TBI.
BIOLOGICAL PSYCHIATRY
(2024)
Article
Neurosciences
Danusa Mar Arcego, Jan-Paul Buschdorf, Nicholas O'Toole, Zihan Wang, Barbara Barth, Irina Pokhvisneva, Nirmala Arul Rayan, Sachin Patel, Euclides Jose de Mendonca Filho, Patrick Lee, Jennifer Tan, Ming Xuan Koh, Chu Ming Sim, Carine Parent, Randriely Merscher Sobreira de Lima, Andrew Clappison, Kieran J. O'Donnell, Carla Dalmaz, Janine Arloth, Nadine Provencal, Elisabeth B. Binder, Josie Diorio, Patricia Pelufo Silveira, Michael J. Meaney
Summary: This study investigates the impact of environmental influences on mental health by integrating transcriptomic data from animal models with human data. The results suggest that hippocampal glucocorticoid-related transcriptional activity mediates the effects of early adversity on neural mechanisms implicated in psychiatric disorders.
BIOLOGICAL PSYCHIATRY
(2024)
Article
Neurosciences
Milenna T. van Dijk, Ardesheer Talati, Pratik Kashyap, Karan Desai, Nora C. Kelsall, Marc J. Gameroff, Natalie Aw, Eyal Abraham, Breda Cullen, Jiook Cha, Christoph Anacker, Myrna M. Weissman, Jonathan Posner
Summary: This study found that maternal stress is associated with future depressive symptoms and alterations in microstructure of the dentate gyrus (DG) in offspring. These results were consistent across two independent cohorts.
BIOLOGICAL PSYCHIATRY
(2024)
Article
Neurosciences
Josephine C. McGowan, Liliana R. Ladner, Claire X. Shubeck, Juliana Tapia, Christina T. LaGamma, Amanda Anqueira-Gonzalez, Ariana DeFrancesco, Briana K. Chen, Holly C. Hunsberger, Ezra J. Sydnor, Ryan W. Logan, Tzong-Shiue Yu, Steven G. Kernie, Christine A. Denny
Summary: Traumatic brain injury (TBI) leads to fear generalization by altering fear memory traces, and this symptom can be improved with (R,S)-ketamine.
BIOLOGICAL PSYCHIATRY
(2024)