Results 161 to 170 of about 81,081 (302)

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Impulsivity in cerebellar ataxia: an online, multidimensional assessment. [PDF]

J Neural Transm (Vienna)
Chasalow B, Flaumenhaft Y, De Picciotto Y, Lin CR, Montaser-Kouhsari L, Saban W.   +5 more
europepmc   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Improvement of <i>Mycoplasma pneumoniae</i>-Associated Acute Cerebellar Ataxia and Possible Encephalopathy After Intravenous Immunoglobulin. [PDF]

Case Rep Infect Dis
Ruff K, Douvoyiannis M.
europepmc   +1 more source

Arts Syndrome and Involuntary Eye Movements

Movement Disorders Clinical Practice, EarlyView.
Victor Rebelo Procaci, Victor Augusto Vanderlinde Camara, Flavio Moura Rezende Filho, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +4 more
wiley   +1 more source

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

Vestibular Loss and Cerebellar Ataxia: A Practical Approach. [PDF]

Ear Hear
Joffily L, Simonyan S, Giunti P, Tarnutzer AA, Koohi N, Kaski D.   +5 more
europepmc   +1 more source

Cerebellar Ataxia [PDF]

Proceedings of the Royal Society of Medicine, 1928
openaire   +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

A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Kalampokini S, Keramidiotis I, Ravanidis S, Lochner P, Kimiskidis VK, Hadjigeorgiou GM.   +5 more
europepmc   +1 more source