Results 81 to 90 of about 10,678 (188)

Pallidal Evoked Resonant Neural Activity as a Candidate Biomarker for Deep Brain Stimulation in Dystonia

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) targeted to the globus pallidus (GP) can effectively alleviate dystonia symptoms. However, identifying optimal therapeutic stimulation parameters is challenging due to the manual programming process and the paucity of acute effects of DBS on dystonia symptoms.
Kara A. Johnson, Patricia B. Coutinho, Filipe P. Sarmento, Elizabeth Vo, Joshua K. Wong, Justin D. Hilliard, Kelly D. Foote, Coralie de Hemptinne   +7 more
wiley   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Functional Connectivity to the Cerebellum and Resting‐State Networks Predict Earlier Improvement of Dystonia Following Globus Pallidus Internus‐Deep Brain Stimulation (GPi‐DBS)

Movement Disorders, EarlyView.
Early improvement of dystonia after globus pallidus internus‐deep brain stimulation (GPi‐DBS) is associated with stimulation of the globus pallidus externus‐subthalamic nucleus (GPe‐STN) fibers and the lenticular fasciculus. Functional connectivity to the cerebellar cortex and the limbic and default mode networks predict early improvement of symptoms ...
A. Enrique Martinez‐Nunez, Vyshak Chandra, Chance R. Fleeting, Aashay Patel, Kelly D. Foote, Justin D. Hilliard, Marta San Luciano Palenzuela, Coralie de Hemptinne, Michael S. Okun, Joshua K. Wong   +9 more
wiley   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source

Types of Pain in Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Pain affects up to 87% of people with multiple system atrophy (MSA), but it remains unclear which types of pain contribute most to the overall burden. Objective To estimate the frequency of different types of pain in MSA individuals.
Nicole Campese, Mubasher A. Qamar, Maria Alexandra Chiriac, Georg Göbel, Julia Wanschitz, Andreas Schlager, Bianca Caliò, Fabian Leys, Pam Bower, Laura Zamarian, Anette Schrag, Roy Freeman, Horacio Kaufmann, Roberta Granata, Stefan Kiechl, Werner Poewe, Klaus Seppi, Gregor Wenning, K. Ray Chaudhuri, Alessandra Fanciulli   +19 more
wiley   +1 more source

Bradykinesia in dystonic hand tremor: kinematic analysis and clinical rating

Frontiers in Human Neuroscience
IntroductionBradykinesia is an essential diagnostic criterion for Parkinson’s disease (PD) but is frequently observed in many non-parkinsonian movement disorders, complicating differential diagnosis, particularly in disorders featuring tremors.
Peter Matejicka, Slavomir Kajan, Jozef Goga, Igor Straka, Marek Balaz, Marek Balaz, Simon Janovic, Michal Minar, Peter Valkovic, Peter Valkovic, Michal Hajduk, Michal Hajduk, Michal Hajduk, Zuzana Kosutzka   +13 more
doaj   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Unveiled SOX2 disorder in a child initially diagnosed as cerebral palsy

Egyptian Journal of Medical Human Genetics
Background SOX2 disorder is a genetic disorder caused by disease-causing variants of the SOX2 located on chromosome 3q26.3-q27.1. SOX2 disorder is clinically characterized by severe eye malformations but is also associated with developmental delay ...
Hanee Rim, Jaewon Kim, Myungshin Kim, Jaewoong Lee, Dae-Hyun Jang   +4 more
doaj   +1 more source

Severity‐Based and Family‐Centered Approaches to Deep Brain Stimulation in GNAO1‐Related Disorders

Movement Disorders Clinical Practice, EarlyView.
Jana Domínguez‐Carral, Juan Darío Ortigoza‐Escobar   +1 more
wiley   +1 more source

Multimodal Treatment of Neck Pain in Multiple System Atrophy

Movement Disorders Clinical Practice, EarlyView.
Bianca Caliò, Svenja Schmidt, Alessandra Fanciulli   +2 more
wiley   +1 more source