Article
Clinical Neurology
Chaoyang Zhang, Huan Yu, Yan Cai, Ning Wu, Shuang Liang, Chun Zhang, Zhiyu Duan, Zhou Zhang, Guangyan Cai
Summary: Neurological damage is commonly observed in individuals with chronic kidney disease (CKD), and this is associated with microstructural damage to the brain white matter and cognitive dysfunction. This study aimed to investigate the correlation between cognitive impairment and diffusion parameters obtained from diffusion tensor imaging (DTI) of abnormal white matter tracts in CKD patients. The results showed extensive white matter microstructural changes and impaired cognitive function in CKD patients, with worse cognitive function and more severe microstructural damage in dialysis-dependent CKD patients compared to non-dialysis-dependent CKD patients.
FRONTIERS IN NEUROLOGY
(2022)
Article
Oncology
Mia Salans, Michelle D. Tibbs, Roshan Karunamuni, Anthony Yip, Minh-Phuong Huynh-Le, Anna Christina Macari, Anny Reyes, Kathryn Tringale, Carrie R. McDonald, Jona A. Hattangadi-Gluth
Summary: The study focuses on exploring the impact of brain radiotherapy on fine motor skills, indicating that higher treatment doses may result in microstructural damage in certain motor-associated brain regions, which can affect motor skill performance.
Article
Clinical Neurology
Carlos Estevez-Fraga, Rachael Scahill, Alexandra Durr, Blair R. Leavitt, Raymund A. C. Roos, Douglas R. Langbehn, Geraint Rees, Sarah Gregory, Sarah J. Tabrizi
Summary: The composite Unified Huntington's Disease Rating Scale (cUHDRS) is correlated with imaging biomarkers and tracks atrophy progression in HD, supporting its biological relevance.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Jan J. A. van den Dorpel, Marjolein H. G. Dremmen, Nadine A. M. E. van der Beek, Dimitris Rizopoulos, Pieter A. van Doorn, Ans T. van der Ploeg, Ryan L. Muetzel, Johanna M. P. van den Hout
Summary: Enzyme replacement therapy has greatly improved the prognosis of patients with Pompe disease. Classic infantile patients show progressive white matter abnormalities, while the brain involvement in late-onset patients is still not well understood. This study used structural and diffusion tensor imaging (DTI) to examine the microstructure of white matter in classic infantile and late-onset Pompe patients. The results showed significant differences in FA and MD between classic infantile patients and a reference population, with large-association fibers being most affected. Late-onset patients did not show deviations from normal neurodevelopment. These findings suggest that DTI can be a promising tool for monitoring therapy response in Pompe patients.
JOURNAL OF NEUROLOGY
(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
Critical Care Medicine
Anupa Ambili Vijayakumari, Drew Parker, Yusuf Osmanlioglu, Jacob A. Alappatt, John Whyte, Ramon Diaz-Arrastia, Junghoon J. Kim, Ragini Verma
Summary: This study utilized FW DTI to estimate free water volume fraction in moderate-to-severe TBI patients and found its association with injury severity and long-term outcomes. The study demonstrated that MVF at 3 months significantly predicted functional outcome, executive function, and processing speed at 12 months, and was correlated with injury severity. These findings are a significant step towards using MVF as a biomarker for personalized therapy and rehabilitation planning in TBI patients.
JOURNAL OF NEUROTRAUMA
(2021)
Article
Genetics & Heredity
Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Karoly Acsai, Zoltan Grosz, Gyorgy Nemeth, Maria Judit Molnar
Summary: This study is the first to investigate the effectiveness of a D2-D3 partial agonist, cariprazine, in the treatment of HD. The findings of this study revealed that cariprazine was effective in treating a wide range of motor symptoms associated with HD.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Neurosciences
Erhard Trillingsgaard Naess-Schmidt, Jakob Udby Blicher, Mille Moller Thastum, Charlotte Ulrikka Rask, Susanne Wulff Svendsen, Andreas Schroder, Astrid Hogh Tuborgh, Leif ostergaard, Ryan Sangill, Torben Lund, Sune Norhoj Jespersen, Asger Roer Pedersen, Brian Hansen, Simon Fristed Eskildsen, Jorgen Feldbaek Nielsen
Summary: A recent study found that a novel behavioral intervention is more effective in reducing symptoms in young patients with long-term post-concussion symptoms compared to enhanced usual care. However, diffusion-weighted MRI indices responded differently to the interventions, and their correlation with the improvement of post-concussion symptoms remains unclear.
JOURNAL OF NEUROSCIENCE RESEARCH
(2021)
Article
Clinical Neurology
Kang Min Park, Keun Tae Kim, Dong Ah Lee, Yong Won Cho
Summary: This study used graph theory and diffusion tensor imaging (DTI) to evaluate the changes in brain structural connectivity in patients with restless legs syndrome (RLS). The results showed that RLS patients had decreased segregation in the brain network compared to healthy controls, and the severity of clinical symptoms was correlated with structural connectivity measures.
Article
Health Care Sciences & Services
Sung Ho Jang, Min Jye Cho
Summary: This study investigated the relationship between the nigrostriatal tract (NST) and the corticospinal tract (CST) with motor function in chronic hemiparetic stroke patients. The results showed a strong positive correlation between the tract volume of ipsilesional NST and fractional anisotropy and the tract volume of ipsilesional CST with the Motricity Index score. The study also found that NST indirectly influenced the motor function of affected extremities through CST.
Article
Clinical Neurology
Matthias Grothe, Katharina Jochem, Sebastian Strauss, Soenke Langner, Michael Kirsch, Kai Hoffeld, Iris Katharina Penner, Guy Nagels, Kai Klepzig, Martin Domin, Martin Lotze
Summary: The study found that the structural integrity of frontoparietal white matter tracts is associated with processing speed in MS patients, with frontoparietal tracts playing a crucial role in information processing speed. Additionally, disease disability and total white matter volume were the main factors associated with processing speed.
FRONTIERS IN NEUROLOGY
(2022)
Article
Neurosciences
Alex Luna, Joel Bernanke, Kakyeong Kim, Natalie Aw, Jordan D. Dworkin, Jiook Cha, Jonathan Posner
Summary: The study compared brain predicted age difference in youth using multimodal MRI and stacked ensemble machine learning. Results showed that combining morphometry and connectomes in the model had better performance, serving as a clinically relevant indicator of psychiatric and cognitive functioning in youth.
HUMAN BRAIN MAPPING
(2021)
Article
Neurosciences
Dongrong Xu, Guojun Xu, Zhiyong Zhao, M. Elizabeth Sublette, Jeffrey M. Miller, J. John Mann
Summary: Research on major depressive disorder patients showed differences in network indices based on disease duration and subgroups, with certain brain regions displaying varying clustering coefficients in short and long-term disease subgroups. Network resilience analysis indicated that the MDDS group had more randomized networks compared to healthy controls.
HUMAN BRAIN MAPPING
(2021)
Article
Clinical Neurology
Luis A. Sierra, Clementina J. Ullman, Clara Baselga-Garriga, Sarbesh R. Pandeya, Samuel A. Frank, Simon Laganiere
Summary: This study used DSM-5 criteria to diagnose neurocognitive disorder in Huntington's disease and found that cognitive impairment occurs early in the disease, with a sharp increase prior to diagnosis. These findings are crucial for optimizing clinical care and anticipating the need for supportive services.
FRONTIERS IN NEUROLOGY
(2023)
Article
Neurosciences
Sher Li Oh, Chiung-Mei Chen, Yih-Ru Wu, Maria Valdes Hernandez, Chih-Chien Tsai, Jur-Shan Cheng, Yao-Liang Chen, Yi-Ming Wu, Yu-Chun Lin, Jiun-Jie Wang
Summary: Microstructure damage in white matter is linked to atrophy in Huntington's Disease, with degeneration of subcortical regions associated with damage of white matter tracts. Fixel-based analysis is effective in studying these microstructural changes in white matter tracts in HD.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Genetics & Heredity
Jong-Min Lee, Yuan Huang, Michael Orth, Tammy Gillis, Jacqueline Siciliano, Eunpyo Hong, Jayalakshmi Srinidhi Mysore, Diane Lucente, Vanessa C. Wheeler, Ihn Sik Seong, Zachariah L. McLean, James A. Mills, Branduff McAllister, Sergey Lobanov, Thomas H. Massey, Marc Ciosi, G. Bernhard Landwehrmeyer, Jane S. Paulsen, E. Ray Dorsey, Ira Shoulson, Cristina Sampaio, Darren G. Monckton, Seung Kwak, Peter Holmans, Lesley Jones, Marcy E. MacDonald, Jeffrey D. Long, James F. Gusella
Summary: The study identified genetic modifier loci in Huntington disease that affect neurological damage and motor cognitive function, offering hope for finding new therapeutic targets in HD treatment.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Vincent A. Magnotta, Jia Xu, Jess G. Fiedorowicz, Aislinn Williams, Joseph Shaffer, Gary Christensen, Jeffrey D. Long, Eric Taylor, Leela Sathyaputri, Jenny Gringer Richards, Gail Harmata, John Wemmie
Summary: This study investigates the brain metabolism in individuals with Bipolar type I disorder (BD) using various imaging and spectroscopy techniques. The findings suggest abnormalities in the cerebellum and putamen, indicating a link between BD and altered metabolism in these brain regions.
JOURNAL OF AFFECTIVE DISORDERS
(2022)
Article
Neurosciences
Branduff McAllister, Jasmine Donaldson, Caroline S. Binda, Sophie Powell, Uroosa Chughtai, Gareth Edwards, Joseph Stone, Sergey Lobanov, Linda Elliston, Laura-Nadine Schuhmacher, Elliott Rees, Georgina Menzies, Marc Ciosi, Alastair Maxwell, Michael J. Chao, Eun Pyo Hong, Diane Lucente, Vanessa Wheeler, Jong-Min Lee, Marcy E. MacDonald, Jeffrey D. Long, Elizabeth H. Aylward, G. Bernhard Landwehrmeyer, Anne E. Rosser, Jane S. Paulsen, Nigel M. Williams, James F. Gusella, Darren G. Monckton, Nicholas D. Allen, Peter Holmans, Lesley Jones, Thomas H. Massey
Summary: This study identifies rare coding variants associated with clinical effects in Huntington's disease (HD) using exome sequencing. Damaging coding variants in candidate modifier genes associated with altered HD onset or severity were discovered. FAN1 nuclease activity slows CAG expansion and is associated with later onset of HD.
NATURE NEUROSCIENCE
(2022)
Article
Clinical Neurology
Georgia M. Parkin, Jody Corey-Bloom, Jeffrey D. Long, Chase Snell, Haileigh Smith, Elizabeth A. Thomas
Summary: Plasma neurofilament light levels are associated with predicted years to onset of Huntington's disease, which may aid in selecting suitable candidates for clinical trials among premanifest Huntington's disease (Pre-HD) subjects.
PARKINSONISM & RELATED DISORDERS
(2022)
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
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)
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
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
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)