Results 1 to 10 of about 4,876 (134)

Early transcriptomic perturbations highlight the spinal cord as a key pathogenic region in spinocerebellar ataxia type 3 [PDF]

Frontiers in Cellular Neuroscience
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by polyglutamine repeat expansion in the ATXN3 gene. Despite the ubiquitous expression of ATXN3 throughout the body, SCA3 pathology is most pronounced in select, vulnerable ...
Jacen Emerson, Jacen Emerson, Brianna S. Nelthrope, Emma A. Walker, Grace Mao, Hannah K. Shorrock, Hayley S. McLoughlin, Hayley S. McLoughlin   +7 more
doaj   +2 more sources

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis [PDF]

Acta Neuropathologica Communications
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease whose exact disease pathogenesis is not yet fully understood. We performed a genetic in-depth analysis of ataxin-2 (ATXN2), a gene that has already been described as a modulator of ...
Marilena Lauerer, Jennifer Faber, Nicolas Casadei, Magda M. Santana, Georg Auburger, Michaela Pogoda, Jakob Admard, Lea Kaupp, Patricia Laura Kos, Mafalda Raposo, Manuela Lima, Luis Pereira de Almeida, Hector Garcia-Moreno, Paola Giunti, Jeroen de Vries, Bart P. van de Warrenburg, Judith van Gaalen, Marcus Grobe-Einsler, Berkan Koyak, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Holger Hengel, Ludger Schöls, Thomas Klockgether, Olaf Rieß, Jeannette Hübener-Schmid, ESMI study group   +28 more
doaj   +2 more sources

Distribution of perivascular spaces distribution and relate to the clinical features of SCA3 [PDF]

Orphanet Journal of Rare Diseases
Background Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative condition. Prior research has established perivascular spaces (PVS) expansion has been implicated in the pathogenesis and prognosis of various neurodegenerative diseases.
Xinyuan Chen, Yanhua Lian, Wei Lin, Xiaoyue Xia, Lin Zhang, Zhuoying Huang, Maolin Cui, Ruying Yuan, Mengcheng Li, Ziqiang Huang, Naping Chen, Yuqing Tu, Jianping Hu, Ning Wang, Qunlin Chen, Shirui Gan   +15 more
doaj   +2 more sources

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

Magnetic Resonance Imaging and Its Clinical Correlation in Spinocerebellar Ataxia Type 3: A Systematic Review

Frontiers in Neuroscience, 2022
BackgroundSpinocerebellar ataxia type 3 (SCA3) is a complex cerebrocerebellar disease primarily characterized by ataxia symptoms alongside motor and cognitive impairments.
Kah Hui Yap, Hanani Abdul Manan, Hanani Abdul Manan, Noorazrul Yahya, Shahrul Azmin, Shahizon Azura Mohamed Mukari, Norlinah Mohamed Ibrahim   +6 more
doaj   +1 more source

Broad Influence of Mutant Ataxin-3 on the Proteome of the Adult Brain, Young Neurons, and Axons Reveals Central Molecular Processes and Biomarkers in SCA3/MJD Using Knock-In Mouse Model

Frontiers in Molecular Neuroscience, 2021
Spinocerebellar ataxia type 3 (SCA3/MJD) is caused by CAG expansion mutation resulting in a long polyQ domain in mutant ataxin-3. The mutant protein is a special type of protease, deubiquitinase, which may indicate its prominent impact on the regulation ...
Kalina Wiatr, Łukasz Marczak, Jean-Baptiste Pérot, Emmanuel Brouillet, Julien Flament, Maciej Figiel   +5 more
doaj   +1 more source

GABAergic neuronal dysfunction underlies tremor in spinocerebellar ataxia 3 [PDF]

Disease Models & Mechanisms
Animesh Banerjee, Moumita Chatterjee, Kah Junn Tan, Shermaine Tay, Kaibo Duan, Anand Kumar Andiappan, Shanshan Wu Howland, Yoshinori Aso, Sherry Shiying Aw   +8 more
doaj   +2 more sources

Disease-associated oligodendrocyte signatures are spatiotemporally dysregulated in spinocerebellar ataxia type 3

Frontiers in Neuroscience, 2023
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN3 gene. Though the ATXN3 protein is expressed ubiquitously throughout the CNS, regional pathology in SCA3 patients is observed within select ...
Kristen H. Schuster, Danielle M. DiFranco, Alexandra F. Putka, Alexandra F. Putka, Juan P. Mato, Juan P. Mato, Sabrina I. Jarrah, Nicholas R. Stec, Vikram O. Sundararajan, Hayley S. McLoughlin   +9 more
doaj   +1 more source

Supratentorial and Infratentorial Lesions in Spinocerebellar Ataxia Type 3

Frontiers in Neurology, 2020
Background: Spinocerebellar ataxia type 3 (SCA) is a cerebellum-dominant degenerative disorder that is characterized primarily by infratentorial damage, although less severe supratentorial involvement may contribute to the clinical manifestation.
Po-Shan Wang, Po-Shan Wang, Po-Shan Wang, Yu-Te Wu, Yu-Te Wu, Yu-Te Wu, Tzu-Yun Wang, Hsiu-Mei Wu, Bing-Wen Soong, Bing-Wen Soong, Bing-Wen Soong, Bing-Wen Soong, Chi-Wen Jao, Chi-Wen Jao, Chi-Wen Jao   +14 more
doaj   +1 more source

Voxel-based meta-analysis of gray matter and white matter changes in patients with spinocerebellar ataxia type 3

Frontiers in Neurology, 2023
PurposeIncreasing neuroimaging studies have revealed gray matter (GM) and white matter (WM) anomalies of several brain regions by voxel-based morphometry (VBM) studies on patients with spinocerebellar ataxia type 3 (SCA3); however, the findings of ...
Hai Liu, Hai Liu, Junyu Lin, Huifang Shang   +3 more
doaj   +1 more source