Results 111 to 120 of about 114,557 (289)

Digital Outcomes of Upper Limb Ataxia Capture Meaningful Longitudinal Change and Treatment Response

Movement Disorders, EarlyView.
Abstract Background Digital‐motor outcomes promise better responsiveness than clinician‐reported outcomes in ataxia trials. However, their patient meaningfulness and sensitivity to change remain to be demonstrated, particularly in the upper limb domain.
Dominik Hermle, Robin Schubert, Pascal Barallon, Winfried Ilg, Rebecca Schüle, Ralf Reilmann, Matthis Synofzik, Andreas Traschütz   +7 more
wiley   +1 more source

Clinical-cognitive Characterization of Spinocerebellar Ataxia Type 2

Revista Finlay, 2021
Background: spinocerebellar ataxia type 2 is a genetic disease with an autosomal dominant inheritance pattern. It constitutes a health problem for Cuba, especially for the Holguín province, which concentrates the largest sick and at-risk population that ...
Alberto Caballero Laguna, Luis Velázquez Pérez, Alián Pérez Marrero   +2 more
doaj   +2 more sources

Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues

Tremor and Other Hyperkinetic Movements, 2014
Background: Deep brain stimulation (DBS) has been utilized to treat various symptoms in patients suffering from movement disorders such as Parkinson's disease, dystonia, and essential tremor.
Genko Oyama, Amanda Thompson, Kelly D. Foote, Natlada Limotai, Muhammad Abd‐El‐Barr, Nicholas Maling, Irene A. Malaty, Ramon L. Rodriguez, Sankarasubramoney H. Subramony, Tetsuo Ashizawa, Michael S. Okun   +10 more
doaj   +1 more source

A variable neurodegenerative phenotype with polymerase gamma mutation [PDF]

, 2009
mtDNA replication and repair, causes mitochondrial diseases including autosomal dominant progressive external ophthalmoplegia (PEO),1 childhood hepato-encephalopathy (Alpers– Huttenlocher syndrome), adult-onset spinocerebellar ataxia, and sensory nerve
Baruffini, E., Endres, M., Horvath, Rita, Lodi, T., Meisel, A., Prüss, H., Siebert, E., Stricker, S., Zschenderlein, R.   +8 more
core   +1 more source

Update on intensive motor training in spinocerebellar ataxia: time to move a step forward?

Journal of International Medical Research, 2019
Some evidence suggests that high-intensity motor training slows down the severity of spinocerebellar ataxia. However, whether all patients might benefit from these activities, and by which activity, and the underlying mechanisms remain unclear.
G. Lanza, Jacopo Antonino Casabona, M. Bellomo, Mariagiovanna Cantone, Francesco Fisicaro, R. Bella, G. Pennisi, P. Bramanti, M. Pennisi, A. Bramanti   +9 more
semanticscholar   +1 more source

Análise volumétrica de cerebelo e tronco cerebral de pacientes com doença de Machado Joseph [PDF]

, 2011
Machado-Joseph disease, or spinocerebellar ataxia type 3(MJD/SCA3), is the most frequent late onset spinocerebellar ataxia and results from a CAG repeat expansion in the ataxin-3 gene. Previous studies have found correlation between atrophy of cerebellum
CAMARGOS, S T, MARQUES-JR, W, SANTOS, A C   +2 more
core   +2 more sources

The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications [PDF]

, 2022
Louisa P. Selvadurai, Susan Perlman, George Wilmot, S. H. Subramony, Christopher M. Gómez, Tetsuo Ashizawa, Henry L. Paulson, Chiadi U. Onyike, Liana S. Rosenthal, Haris I. Sair, Sheng‐Han Kuo, Eva‐Maria Ratai, Theresa A. Zesiewicz, Khalaf Bushara, Gülin Öz, Cameron Dietiker, Michael D. Geschwind, Alexandra Nelson, Puneet Opal, Talene A. Yacoubian, Peg Nopoulos, Vikram G. Shakkottai, Karla P. Figueroa, Stefan M. Pulst, Peter E. Morrison, Jeremy D. Schmahmann   +25 more
openalex   +1 more source

Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29

Proceedings of the National Academy of Sciences of the United States of America, 2018
Significance Spinocerebellar ataxias (SCAs) are neurological disorders caused by cerebellar dysfunction. Missense mutations in inositol 1,4,5-trisphosphate (IP3) receptor type 1 (IP3R1), an IP3-gated intracellular Ca2+ channel, are associated with ...
Hideaki Ando, Matsumi Hirose, K. Mikoshiba   +2 more
semanticscholar   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. [PDF]

, 2008
OBJECTIVE: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6.
Baliko L, Bauer P, Boesch S, Charles P, Coudert M, Depondt C, di Donato S, du Montcel ST, Döhlinger S, Dürr A, Fancellu R, FILLA, ALESSANDRO, Giunti P, Globas C, Infante J, Kang JS, Klockgether T., Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schmitz Hübsch T, Schöls L, Stephenson DA, Szymanski S, Timmann D, van de Warrenburg BP, Zdienicka E   +30 more
core