Results 41 to 50 of about 26,249 (178)

Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients

Annals of Clinical and Translational Neurology, 2020
Objective Spinocerebellar ataxia type 3 (SCA3) is one of the most common hereditary neurodegenerative diseases, with balance instability as main symptom. Balance quantification is crucial for evaluating the efficacy of therapeutic interventions. However,
Xia‐Hua Liu, Ying Li, Hao‐Ling Xu, Arif Sikandar, Wei‐Hong Lin, Gui‐He Li, Xiao‐Fen Li, Alimire Alimu, Sheng‐Bin Yu, Xiang‐Hui Ye, Ning Wang, Jun Ni, Wan‐Jin Chen, Shi‐Rui Gan   +13 more
doaj   +1 more source

Generation of Common Marmoset Model Lines of Spinocerebellar Ataxia Type 3

Frontiers in Neuroscience, 2020
Animal models are indispensable tools in the development of innovative treatments for rare and incurable diseases. To date, there is almost no effective treatment for neurodegenerative diseases, and animal models that properly simulate human disease ...
Ikuo Tomioka, Ikuo Tomioka, Yoshitaka Nagai, Yoshitaka Nagai, Kazuhiko Seki   +4 more
doaj   +1 more source

Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ataxia type 3

Disease Models & Mechanisms, 2022
Spinocerebellar ataxia type 3 (SCA3) is an adult-onset, progressive ataxia. SCA3 presents with ataxia before any gross neuropathology. A feature of many cerebellar ataxias is aberrant cerebellar output that contributes to motor dysfunction.
Kristin Mayoral-Palarz, Andreia Neves-Carvalho, Sara Duarte-Silva, Daniela Monteiro-Fernandes, Patrícia Maciel, Kamran Khodakhah   +5 more
doaj   +1 more source

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source

Clinical and Physiological Significance of F-Wave in Spinocerebellar Ataxia Type 3

Frontiers in Neurology, 2020
Objective: To evaluate the characteristics of F-wave in spinocerebellar ataxia type 3 (SCA3) patients and preclinical carriers of SCA3 gene mutation (PreSCA3), and explore the relationship between disease severity and F-wave parameters and evaluate F ...
Qiong Cai, Qiong Cai, Wenxiao Xu, Wenxiao Xu, Songjie Liao, Songjie Liao, Yinxing Liang, Yinxing Liang, Chao Wu, Chao Wu, Xunhua Li, Xunhua Li   +11 more
doaj   +1 more source

Drosophila as a Model of Unconventional Translation in Spinocerebellar Ataxia Type 3

Cells, 2022
RNA toxicity contributes to diseases caused by anomalous nucleotide repeat expansions. Recent work demonstrated RNA-based toxicity from repeat-associated, non-AUG-initiated translation (RAN translation).
Sean L. Johnson, Matthew V. Prifti, Alyson Sujkowski, Kozeta Libohova, Jessica R. Blount, Luke Hong, Wei-Ling Tsou, Sokol V. Todi   +7 more
doaj   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3 [PDF]

Journal of Movement Disorders, 2019
Objective Machado-Joseph disease (MJD) is a spinocerebellar ataxia, and osteoporosis is a multifactor disease that may affect patients with neurologic conditions. The frequency of osteoporosis among MJD patients, however, has not been studied.
Aline MS Farias, Simone Appenzeller, Marcondes C França, Alberto RM Martinez, Elba E Etchebehere, Thiago F Souza, Allan O Santos   +6 more
doaj   +1 more source

Establishment of human-induced pluripotent stem cell GZHMCi0011-A from peripheral blood mononuclear cells from a volunteer with 14/63 CAG repeats of the ATXN3 mutation

Stem Cell Research, 2023
Spinocerebellar ataxia type 3 (SCA3) is a genetic degeneration disease of the nervous system with ataxia as the main clinical manifestation, and the most frequent subtype of SCA3 is known to be caused by CAG repeat expansions of more than 55 units in ...
Guan Hongmei, Sun Xiaofang, Song Bing
doaj   +1 more source

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

BMC Neurology
Background Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases.
Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin   +5 more
doaj   +1 more source