Results 61 to 70 of about 9,501 (200)

Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants in PD.
Lara M. Lange, Zih‐Hua Fang, Laurel Screven, Ai Huey Tan, Roy N. Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L.I. Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin‐Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M. Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K. Wszolek, Lesley Wu, Ruey‐Meei Wu, Kirsten E. Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E. Mencacci, Huw R. Morris, Shen‐Yang Lim, Katja Lohmann, Christine Klein, the Global Parkinson's Genetics Program (GP2)   +37 more
wiley   +1 more source

Reduced pallidal output causes dystonia

Frontiers in Systems Neuroscience, 2011
Dystonia is a neurological disorder characterized by sustained or repetitive involuntary muscle contractions and abnormal postures. In the present article, we will introduce our recent electrophysiological studies in hyperkinetic transgenic mice ...
Atsushi eNambu, Atsushi eNambu, Satomi eChiken, Satomi eChiken, Pullanipally eShashidharan, Hiroki eNishibayashi, Mitsuhiro eOgura, Koji eKakishita, Satoshi eTanaka, Yoshihisa eTachibana, Yoshihisa eTachibana, Hitoshi eKita, Toru eItakura   +12 more
doaj   +1 more source

Optimal deep brain stimulation sites and networks for cervical vs. generalized dystonia

, 2022
Andreas Horn, Martin M. Reich, Siobhán Ewert, Ningfei Li, Bassam Al‐Fatly, Florian Lange, Jonas Roothans, Simón Oxenford, Isabel Horn, Steffen Paschen, Joachim Runge, Fritz Wodarg, Karsten Witt, Robert Nickl, Matthias Wittstock, Gerd‐Helge Schneider, Philipp Mahlknecht, Werner Poewe, Wilhelm Eisner, Ann‐Kristin Helmers, Cordula Matthies, Joachim K. Krauss, Günther Deuschl, Jens Volkmann, Andrea A. Kühn   +24 more
openalex   +2 more sources

The Second Hit Hypothesis in Animal and Human Dystonia: The Role of Peripheral Nerve Trauma and Spinal Cord Injury

Movement Disorders, EarlyView.
The “second‐hit” hypothesis proposes that both a genetic predisposition and an environmental insult—such as peripheral nerve trauma or spinal cord injury—are required for dystonia development. This review explores how neuroinflammation and maladaptive plasticity, triggered by nerve and spinal cord injury, contribute to dystonia pathogenesis.
Lisa Harder‐Rauschenberger, Chi Wang Ip   +1 more
wiley   +1 more source

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Polyelectromyography Under Propofol to Differentiate Functional from Idiopathic Dystonia: A Pilot Study

Movement Disorders, EarlyView.
Abstract Background Functional dystonia (FD) is one of the most diagnostically challenging functional movement disorders. Phenomenological features often lack specificity, as many are also observed in idiopathic dystonia (ID) and validated biomarkers to distinguish FD from ID are currently unavailable Objective To investigate potential differences in ...
Roberto Eleopra, Fabio Paio, Sara Rinaldo, Carla Carozzi, Amanda Oriana, Grazia Devigili, Luigi Michele Romito, Roberto Cilia, Nico Golfrè Andreasi, Gianfranco Gaudiano, Marta Corradi, Antonio Emanuele Elia, Fabiana Colucci, Arianna Braccia, Roberta Telese, Michele Tinazzi, Marco Gemma, Valentina Leta   +17 more
wiley   +1 more source

Clinical Spectrum of Focal Dystonia in Patients at Tertiary Care Hospital in Karachi: A Cross-Sectional Study

Journal of University College of Medicine and Dentistry
Objective: To describe the clinical patterns and types of focal dystonia among patients presenting to the neurology department of a tertiary care hospital in Karachi. Methodology: This descriptive cross-sectional study was undertaken at Dr. Ruth K. M.
Rabiya Khan, Qamar-Un-Nisa, Sidra Jazil Faruqi, Sumera Rafat Umer, Rabia Iqbal, Wajid Jawaid   +5 more
doaj   +1 more source

Age-related sexual dimorphism in temporal discrimination and in adult-onset dystonia suggests GABAergic mechanisms.

Frontiers in Neurology, 2015
Background: Adult onset isolated focal dystonia presenting in early adult life is more frequent in men whereas in middle age it is female predominant.
John S. Butler, Ines M Beiser, Ines M Beiser, Laura eWilliams, Laura eWilliams, Eavan eMcGovern, Eavan eMcGovern, Fiona eMolloy, Tim eLynch, Daniel G Healy, Helena eMoore, Richard eWalsh, Richard B Reilly, Richard B Reilly, Sean eO'Riordan, Sean eO'Riordan, Cathal eWalsh, Cathal eWalsh, Michael eHutchinson, Michael eHutchinson   +19 more
doaj   +1 more source

Distinct Roles of Cerebellar Afferent and Efferent Fiber Tracts in Craniocervical Dystonia

Movement Disorders, EarlyView.
Abstract Background The cerebellum has been widely implicated in the pathogenesis of craniocervical dystonia (CCD). Subthalamic nucleus deep brain stimulation (STN‐DBS) has emerged as an effective therapy for CCD. However, the roles of cerebellar afferent and efferent pathways in CCD pathogenesis and STN‐DBS treatment remain poorly understood ...
Bin Liu, Wenjie Li, Yanyang Zhang, Tao Yu, Zaixu Cui, Xiaoyu Xu, Junpeng Xu, Xin Chen, Jingyu Feng, Zhiqi Mao, Jun Yang   +10 more
wiley   +1 more source

Exploring Heading Direction Perception in Cervical Dystonia, Tremor, and Their Coexistence

Brain Sciences
Objective: Dystonias, characterized by excessive muscle contractions resulting in involuntary postures and movements, impact 3 million people globally, making them the third most common movement disorder.
Aratrik Guha, Hanieh Agharazi, Palak Gupta, Aasef G. Shaikh   +3 more
doaj   +1 more source