Results 171 to 180 of about 20,538 (302)

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Anti-NMDA Receptor Encephalitis with Predominant Psychiatric Symptomatology and Diagnostic Dilemmas: A Case Report. [PDF]

Reports (MDPI)
Siladji D, Ljubotin L, Amidzic J, Kuljancic D, Stankovic Stevanovic N.   +4 more
europepmc   +1 more source

Indirect Striatal Projection Neurons Drive a D2 Receptor‐Dependent Pathway to Dyskinesia and Dystonia

Movement Disorders, EarlyView.
D2 receptor ablation in indirect‐pathway striatal neurons reduces or abolishes dyskinetic and dystonic behaviors induced by L‐DOPA or D2 receptor agonists, respectively. Contralateral turning is reduced, while forward locomotion is increased. These effects are associated with modulation of neuronal activity in dorsal striatum and external globus ...
Laura Andreoli, Teodor Nyman, Elena Espa, Johan Jakobsson, Osama F. Elabi, Maria Angela Cenci   +5 more
wiley   +1 more source

Acute and reversible dyskinesias secondary to lithium toxicity: case report and literature review. [PDF]

BMC Neurol
Falletti M, Di Flumeri F, Zampogna A, Patera M, Fabbrini G, Suppa A.   +5 more
europepmc   +1 more source

Speech and Deep Brain Stimulation in Parkinson's Disease, Essential Tremor, and Dystonia: A Systematic Review and Meta‐analysis

Movement Disorders, EarlyView.
Abstract Deep brain stimulation (DBS) effectively treats motor symptoms in movement disorders but often compromises speech through incompletely defined mechanisms. We conducted a PROSPERO‐registered systematic review and meta‐analysis of publications through August 2024 (CRD42024527738).
Elina Tripoliti, Takashi Tsuboi, Michael T. Barbe, Mario Sousa, Julie Barkmeier‐Kraemer, Hannah Jergas, Gaia Arno, Nicole Buie, Mikayla Day, Petr Krýže, Jayson R. Nelson, Aaron E.L. Warren, Shervin Rahimpour, Jan Rusz, Paul Krack, Kristina Simonyan   +15 more
wiley   +1 more source

Opicapone as Add-On Therapy to Continuous Subcutaneous Foslevodopa/Foscarbidopa Infusion: Clinical Improvement and Wearable Sensor-Based Gait Analysis. [PDF]

Brain Sci
Solla P, Masala C, Martinez G, Galiero R, Floris V, Ogana E, Canu V, Loy F, Ercoli T.   +8 more
europepmc   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Advanced Therapeutics in Parkinson's Disease: What's New? [PDF]

Curr Neurol Neurosci Rep
Monje MHG, Karl JA, Cooper CS, Yomtoob J, Deliz J, Morse LA, Shetty N, Verhagen Metman L.   +7 more
europepmc   +1 more source

Long‐Duration Response to Levodopa in the PPMI‐Cohort

Movement Disorders, EarlyView.
Abstract Background Treatment of Parkinson's disease (PD) with levodopa results in a sustained reduction of symptoms. Although the plasma half‐life of levodopa is short, it elicits a lasting effect, the long‐duration levodopa response (LDR). A decrease in LDR as PD progresses has been linked to motor complications, but long‐term data on the LDR and its
Nils Schnalke, Tim Feige, Tom Hähnel, Björn Falkenburger   +3 more
wiley   +1 more source

Multidisciplinary Management of Paraneoplastic Anti-N-Methyl-D-Aspartate Receptor Encephalitis Associated With Ovarian Teratoma: A Case Report. [PDF]

Cureus
Meléndez-Fernandez AP, Ramos-Griera MF, Castorena-García P, Álvarez-Blanco JM, De La Peña-López R, Duran-López N, Tirado-García LA, Gomez-Arias VH, Molina-Tabarez KB.   +8 more
europepmc   +1 more source