Article
Clinical Neurology
Alessia Nasca, Niccolo E. Mencacci, Federica Invernizzi, Michael Zech, Ignacio J. Keller Sarmiento, Andrea Legati, Chiara Frascarelli, Bernabe Bustos, Luigi M. Romito, Dimitri Krainc, Juliane Winkelmann, Miryam Carecchio, Nardo Nardocci, Giovanna Zorzi, Holger Prokisch, Steven J. Lubbe, Barbara Garavaglia, Daniele Ghezzi
Summary: Nasca et al. have discovered a new candidate gene for dystonia, ATP5F1B, which encodes a subunit of the mitochondrial ATP synthase. This gene is associated with early-onset isolated dystonia in two families with autosomal dominant inheritance and incomplete penetrance. Functional studies showed a dominant-negative effect of the identified ATP5F1B variants, leading to reduced activity of complex V and impaired mitochondrial function.
Article
Neurosciences
Kahori Kita, Shinichi Furuya, Rieko Osu, Takashi Sakamoto, Takashi Hanakawa
Summary: The study suggests that abnormal cerebellar activity and cerebello-cortical connectivity may play a role in the neuropathophysiology of musician's dystonia. Pianists with FTSD showed greater activation of the right cerebellum during the task, and those who reported dystonic symptoms demonstrated greater cerebellar activation, indicating a link between cerebellar activity and overt dystonic symptoms. Additionally, there were differences in the task-related effective connectivity between the right cerebellum and left premotor/somatosensory cortex between dystonic and healthy pianists.
Article
Clinical Neurology
Xiu Wang, Wenhan Hu, Huimin Wang, Dongmei Gao, Yuye Liu, Xin Zhang, Yin Jiang, Jiajie Mo, Fangang Meng, Kai Zhang, Jian-Guo Zhang
Summary: Purpose of this study is to investigate the network disruption in individuals affected by primary craniocervical dystonia (CCD) using brain connectivity network analyses based on morphological distribution similarities. Results showed decreased local nodal properties in specific brain regions in CCD patients compared to healthy controls. The right middle frontal gyrus and globus pallidus were found to be the most severely affected regions in patients with CCD. Widespread alterations in morphological connectivity were observed in CCD patients.
FRONTIERS IN NEUROLOGY
(2022)
Article
Genetics & Heredity
Rebecca Kingdom, Marcus Tuke, Andrew Wood, Robin N. Beaumont, Timothy M. Frayling, Michael N. Weedon, Caroline F. Wright
Summary: This study investigated the phenotypic effect of rare, potentially deleterious variants in genes associated with monogenic developmental disorders (DDs) in a large population cohort. The findings suggest that individuals with these variants have mild DD-related phenotypes and significant socioeconomic disadvantages in the general adult population.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Ignacio J. Keller Sarmiento, Avram Fraint, Lisa Kinsley, Rizwan S. Akhtar, Vincenzo Silani, Steven J. Lubbe, Dimitri Krainc, Niccolo E. Mencacci
Summary: We report a case of young onset generalized dystonia with a previously unreported likely pathogenic THAP1 gene mutation, which was inherited from the unaffected father. Additionally, deep brain stimulation was found to have a positive effect on the cervical symptoms of dystonia.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Clinical Neurology
Hauke Baumann, Fabian Ott, Joachim Weber, Michaela Trilck-Winkler, Alexander Munchau, Simone Zittel, Vladimir S. Kostic, Frank J. Kaiser, Christine Klein, Hauke Busch, Philip Seibler, Katja Lohmann
Summary: This study systematically analyzed reduced penetrance in DYT-THAP1 using transcriptomes, suggesting that transcriptional alterations during cortical development influence DYT-THAP1 pathogenesis and penetrance. The findings reinforce previously linked pathways, including dopamine and eukaryotic translation initiation factor 2 alpha signaling in dystonia pathogenesis, and highlight extracellular matrix organization and DNA methylation as potential mediators of disease protection.
MOVEMENT DISORDERS
(2021)
Article
Neuroimaging
Tobias Mantel, Angela Jochim, Tobias Meindl, Jonas Deppe, Claus Zimmer, Yong Li, Bernhard Haslinger
Summary: Through diffusion imaging study of patients with blepharospasm and healthy controls, we found abnormal brain connectivity in patients, especially in connections related to vision and movement. The cerebellum may also contribute to the occurrence of this disease.
NEUROIMAGE-CLINICAL
(2022)
Article
Biochemistry & Molecular Biology
Yan Cheng, Fumou Sun, Krista Thornton, Xuefang Jing, Jing Dong, Grant Yun, Michael Pisano, Fenghuang Zhan, Sung Hoon Kim, John A. Katzenellenbogen, Benita S. Katzenellenbogen, Parameswaran Hari, Siegfried Janz
Summary: FOXM1 plays a crucial role in myeloma metabolism by regulating glycolysis and oxidative phosphorylation pathways. Inhibiting FOXM1 can effectively suppress myeloma growth, offering potential new approaches for therapy and prevention.
Article
Cell Biology
Sean C. Murphy, Luca Godenzini, Robertas Guzulaitis, Andrew J. Lawrence, Lucy M. Palmer
Summary: Exposure to cocaine leads to significant changes in the structure and function of neurons in the mesocorticolimbic pathway. This study investigates how cocaine affects the processing of information in the sensory cortex by studying the effects of acute cocaine exposure on layer 2/3 pyramidal neurons in the primary somatosensory cortex. The results show that cocaine reduces membrane potential state transitions, decreases spontaneous action potentials and Ca2+ transients, and has a heterogeneous impact on sensory encoding.
Article
Clinical Neurology
Sang Wook Lee, Hyun Joo Cho, Hae-Won Shin, Mark Hallett
Summary: The study revealed that sensory tricks can improve cortical function and reduce corticomuscular connectivity in cervical dystonia patients, ultimately alleviating the dystonic symptoms. Differences in corticocortical and corticomuscular coherence were observed between healthy subjects and different patient subgroups during the execution of sensory tricks.
CLINICAL NEUROPHYSIOLOGY
(2021)
Article
Clinical Neurology
Liang Feng, Dazhi Yin, Xiangbin Wang, Yifei Xu, Yongsheng Xiang, Fei Teng, Yougui Pan, Xiaolong Zhang, Junhui Su, Zheng Wang, Lingjing Jin
Summary: This study revealed distinct brain connectivity patterns related to symptom severity in cervical dystonia patients, and the reduction of excessive functional connectivity between sensorimotor cortex and frontal gyrus by BoNT-A treatment was correlated with clinical response changes. Additionally, the pre-treatment regional homogeneity of the frontal gyrus showed linear relationship with treatment response variations.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Neurosciences
Daniel D. Lam, Rhiannan H. Williams, Ernesto Lujan, Koji Tanabe, Georg Huber, Nay Lui Saw, Juliane Merl-Pham, Aaro Salminen, David Lohse, Sally Spendiff, Melanie J. Plastini, Michael Zech, Hanns Lochmueller, Arie Geerlof, Stefanie M. Hauck, Mehrdad Shamloo, Marius Wemig, Juliane Winkelmann
Summary: Collagen VI plays a crucial role in muscle basement membranes and genetic variants can cause muscular dystrophies. Recent studies have shown that collagen VI is also involved in central nervous system function and dystonia. In this study, mice with a truncation of the collagen alpha 3 (VI) C-terminal domain were generated and showed a dystonia-like phenotype. It was found that collagen VI interacts with the cannabinoid receptor 1 complex in a C-terminal domain-dependent manner. The mice exhibited impaired excitatory input in the basal pontine nuclei, which improved with CB1R agonist treatment, suggesting a therapeutic addressable synaptic mechanism for motor control.
JOURNAL OF NEUROSCIENCE
(2022)
Article
Fisheries
M. B. O. Huserbraten, I. A. Johnsen, Carrie Byron
Summary: The high infestation of salmon louse raises concerns about the sustainability of the Norwegian Atlantic salmon aquaculture industry. The connectivity of infective pelagic lice stages among farms plays a vital role in louse population dynamics, but the processes regulating this connectivity are not well understood. A biophysical dispersal model using ocean currents was employed to study the connectivity network among salmon farms in western Norway, showing that the complex geography of the fjords governs the long-term topology of the network, but there is also a strong seasonal component to network fragmentation.
ICES JOURNAL OF MARINE SCIENCE
(2022)
Article
Neurosciences
An Vo, Nha Nguyen, Koji Fujita, Katharina A. Schindlbeck, Andrea Rommal, Susan B. Bressman, Martin Niethammer, David Eidelberg
Summary: Primary dystonia is caused by abnormal functional relationships between basal ganglia and cerebellar motor circuits. Resting-state functional MRI (rs-fMRI) can provide unique information on the anatomy of abnormal brain circuits, and it is found that networks involving basal ganglia, cerebellum, thalamus, sensorimotor areas, and cortical association regions are elevated in hereditary and sporadic dystonia. The expression of these networks is correlated with dystonia motor ratings and can improve the accuracy of predictions for new treatments.
Article
Multidisciplinary Sciences
Gwynne L. Davis, Adelaide R. Minerva, Argentina Lario, Linda D. Simmler, Carolyn Rodriguez, Lisa A. Gunaydin
Summary: Intravenous infusion of ketamine rapidly reduces obsessive-compulsive disorder symptoms. Here, the authors show in mice that ketamine acts by increasing activity in a fronto-striatal circuit that causally controls compulsive grooming behavior.
NATURE COMMUNICATIONS
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Jonathan P. Dyke, Helen S. Xu, Ajay Verma, Henning U. Voss, J. Levi Chazen
Editorial Material
Neurosciences
Charles J. Lynch, Henning U. Voss, Benjamin M. Silver, Jonathan D. Power
Article
Engineering, Biomedical
Ali Demir, Mehmed Ozkan, Aziz M. Ulug
Summary: The study aims to identify distinct characteristics of brain white matter in bipolar disorder, proposing a new global measurement method. Results indicate that macro-structural dispersion information is significant for discrimination of bipolar patients from healthy controls.
IEEE TRANSACTIONS ON BIOMEDICAL ENGINEERING
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Katharina A. Schindlbeck, Deepak K. Gupta, Chris C. Tang, Sarah A. O'Shea, Kathleen L. Poston, Yoon Young Choi, Vijay Dhawan, Jean-Paul Vonsattel, Stanley Fahn, David Eidelberg
Summary: The automated image-based algorithm can help improve diagnostic accuracy during the period of clinical uncertainty in patients with Parkinson's disease.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Shichun Peng, Chris Tang, Katharina Schindlbeck, Yaacov Rydzinski, Vijay Dhawan, Phoebe G. Spetsieris, Yilong Ma, David Eidelberg
Summary: The study found that using F-18-FPCIT PET can help evaluate metabolic patterns in Parkinson's disease patients, with similar effects to F-18-FDG PET, while also assessing dopamine transporter binding in the striatum. Results showed that PD patients had higher PDRP subject scores and lower DAT binding, while PDCP scores correlated with disease duration, F-18-FDG PET measurements, and DAT binding.
JOURNAL OF NUCLEAR MEDICINE
(2021)
Article
Neurosciences
An Vo, Katharina A. Schindlbeck, Nha Nguyen, Andrea Rommal, Phoebe G. Spetsieris, Chris C. Tang, Yoon Young Choi, Martin Niethammer, Vijay Dhawan, David Eidelberg
Summary: Functional imaging is widely used to identify disease-specific networks in neurodegenerative disorders. In Parkinson's disease, network assortativity increases over time, with high assortativity associated with clinically aggressive genetic variants and low assortativity associated with genes related to slow progression.
Article
Biophysics
Sayim Gokyar, Henning U. Voss, Victor Taracila, Fraser J. L. Robb, Michael Bernico, Douglas Kelley, Douglas J. Ballon, Simone Angela Winkler
Summary: This article presents the design and simulation of a body-sized radiofrequency body coil for ultrahigh field MRI, addressing the challenges of transmit field nonuniformity and low specific absorption rate efficiency. It offers potential for improved clinical application of the technology.
NMR IN BIOMEDICINE
(2022)
Article
Clinical Neurology
Tomaz Rus, Katharina A. Schindlbeck, Chris C. Tang, An Vo, Vijay Dhawan, Maja Trost, David Eidelberg
Summary: The study aimed to explore the relationship between the two brain networks, PDRP and PDCP, in patients with Parkinson's disease, finding a predominance of PDRP over PDCP which can aid in differential diagnosis and tracking disease progression in different types of Parkinson's disease.
MOVEMENT DISORDERS
(2022)
Review
Clinical Neurology
Matej Perovnik, Tomaz Rus, Katharina A. Schindlbeck, David Eidelberg
Summary: Network analytical tools are used to study brain diseases by analyzing imaging maps. Specific networks can be identified and validated, allowing for quantitative assessment of pathway changes over time and during treatment. Network abnormalities can be identified before symptoms and used to track disease progression and treatment efficacy. The development of analogous methods for functional MRI has expanded the application of network tools to diverse patient populations.
NATURE REVIEWS NEUROLOGY
(2023)
Article
Neurosciences
An Vo, Nha Nguyen, Koji Fujita, Katharina A. Schindlbeck, Andrea Rommal, Susan B. Bressman, Martin Niethammer, David Eidelberg
Summary: Primary dystonia is caused by abnormal functional relationships between basal ganglia and cerebellar motor circuits. Resting-state functional MRI (rs-fMRI) can provide unique information on the anatomy of abnormal brain circuits, and it is found that networks involving basal ganglia, cerebellum, thalamus, sensorimotor areas, and cortical association regions are elevated in hereditary and sporadic dystonia. The expression of these networks is correlated with dystonia motor ratings and can improve the accuracy of predictions for new treatments.
Correction
Clinical Neurology
Matej Perovnik, Tomaz Rus, Katharina A. A. Schindlbeck, David Eidelberg
NATURE REVIEWS NEUROLOGY
(2023)
Article
Clinical Neurology
Martin Niethammer, Chris C. C. Tang, Roland Dominic G. Jamora, An Vo, Nha Nguyen, Yilong Ma, Shichun Peng, Jeff L. Waugh, Ana Westenberger, David Eidelberg
Summary: The objective of this study was to characterize a metabolic brain network associated with X-linked dystonia-parkinsonism (XDP). PET scans were conducted on Filipino men with XDP and healthy men without the condition. The results showed that XDP is associated with abnormal functional connectivity in the brain.
ANNALS OF NEUROLOGY
(2023)
Article
Neuroimaging
Phoebe G. Spetsieris, David Eidelberg
Summary: Notable progress has been made in the study of neurodegenerative diseases using reduction techniques such as principal component analysis (PCA) and sparse inverse covariance estimation (SICE) in positron emission tomography (PET) data. In a recent study on Parkinson's disease (PD) patients, SICE combined with PCA was used to optimize maps of functional metabolic connectivity and identify key regional hubs and their connections in the brain. This approach revealed a core subnetwork that remained consistent across PD patients and could serve as a target for disease modification.
NEUROIMAGE-CLINICAL
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Sevim Cengiz, Dilek Betul Arslan, Ani Kicik, Emel Erdogdu, Muhammed Yildirim, Gokce Hale Hatay, Zeynep Tufekcioglu, Aziz Mufit Ulug, Basar Bilgic, Hasmet Hanagasi, Tamer Demiralp, Hakan Gurvit, Esin Ozturk-Isik
Summary: This study investigated the metabolic changes of mild cognitive impairment in Parkinson's disease using proton magnetic resonance spectroscopic imaging. The results revealed metabolic alterations in specific brain regions in PD-MCI patients, which were associated with cognitive dysfunction.
MAGNETIC RESONANCE MATERIALS IN PHYSICS BIOLOGY AND MEDICINE
(2022)
Article
Computer Science, Information Systems
Isabelle Saniour, Fraser J. L. Robb, Victor Taracila, Vishwas Mishra, Jana Vincent, Henning U. Voss, Michael G. Kaplitt, J. Levi Chazen, Simone Angela Winkler
Summary: A novel FUS-Flex coil design is proposed to improve MR image quality during MRgFUS procedures by increasing the signal-to-noise ratio. Experimental results demonstrate a significant increase in SNR in the brain region with the use of the FUS-Flex coil, which could potentially enhance surgical precision and real-time imaging.