Results 171 to 180 of about 55,413 (307)

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

Homozygous PNPLA6 Mutation (p.Arg1183Trp) Associated With Isolated Cerebellar Ataxia: A Familial Case Report. [PDF]

Cureus
Alawadhi A, Almarzooqi A, Khan M, Alrukn S.   +3 more
europepmc   +1 more source

Therapeutic targeting of blood-derived protein infiltration to modulate neuroinflammation in cerebellar ataxia. [PDF]

J Neuroinflammation
Park SM, Kim SS, Cho E, Lee GB, Lee JM, Kim DW, Kim JH, Kim JE, Choi GE, Lee HW, Suk K, Yoon JH, Kim S, Kim SR.   +13 more
europepmc   +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

Mild-cerebellar ataxia due to impaired mitochondrial function caused by the <i>MSTO1</i> variations. [PDF]

Front Neurosci
Wu B, Lv J, Shen T, Wen B, Wang T.
europepmc   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Sez6L2 autoimmunity induces cerebellar ataxia in mice. [PDF]

J Neuroinflammation
Reyes-Sepúlveda CJ, Granato JM, Randolph J, Ryan AT, Hobbins A, Stout A, Silver N, Li H, Hammond JW.   +8 more
europepmc   +1 more source

A FAMILY WITH CEREBELLAR ATAXIA [PDF]

BMJ, 1914
openaire   +2 more sources

Re‐Emergent Postural Tremor Without Clinical Resting Tremor in Parkinson's Disease—A Case Report

Movement Disorders Clinical Practice, EarlyView.
Kevin R.E. van den Berg, Rick C. Helmich
wiley   +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