Results 51 to 60 of about 5,948 (206)

Abnormal eye movements in spinocerebellar ataxia type 3

BMC Neurology, 2021
Background Abnormal eye movements are common in spinocerebellar ataxias Type 3 (SCA3). We conducted the research to explore the frequency of abnormal eye movements in Chinese patients with SCA3, to compare the demographic and clinical characteristics ...
Junyu Lin, Lingyu Zhang, Bei Cao, Qianqian Wei, Ruwei Ou, Yanbing Hou, Xinran Xu, Kuncheng Liu, Xiaojing Gu, Huifang Shang   +9 more
doaj   +1 more source

Impaired Efficiency and Resilience of Structural Network in Spinocerebellar Ataxia Type 3

Frontiers in Neuroscience, 2018
Background: Recent studies have shown that the patients with spinocerebellar ataxia type 3 (SCA3) may not only have disease involvement in the cerebellum and brainstem but also in the cerebral regions.
Yu-Te Wu, Yu-Te Wu, Shang-Ran Huang, Chi-Wen Jao, Bing-Wen Soong, Bing-Wen Soong, Jiing-Feng Lirng, Jiing-Feng Lirng, Hsiu-Mei Wu, Hsiu-Mei Wu, Po-Shan Wang, Po-Shan Wang   +11 more
doaj   +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

Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

Antioxidants, 2022
SCA1, SCA2, and SCA3 are the most common forms of SCAs among the polyglutamine disorders, which include Huntington’s Disease (HD). We investigated the relationship between leukocyte telomere length (LTL) and the phenotype of SCA1, SCA2, and SCA3 ...
Daniela Scarabino, Liana Veneziano, Alessia Fiore, Suran Nethisinghe, Elide Mantuano, Hector Garcia-Moreno, Gianmarco Bellucci, Nita Solanky, Maria Morello, Ginevra Zanni, Rosa Maria Corbo, Paola Giunti   +11 more
doaj   +1 more source

Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line

Stem Cell Research, 2019
Spinocerebellar ataxia type 3 (SCA3) is a fatal, late-onset neurodegenerative disorder characterized by selective neuropathology in the brainstem, cerebellum, spinal cord, and substantia nigra.
Lauren R. Moore, Laura Keller, David D. Bushart, Rodrigo G. Delatorre, Duojia Li, Hayley S. McLoughlin, Maria do Carmo Costa, Vikram G. Shakkottai, Gary D. Smith, Henry L. Paulson   +9 more
doaj   +1 more source

Reduced expression of DNAJB1 in SCA3 patient derived cell lines.

, 2018
(A) DNAJB1 protein levels are slightly reduced in differentiated SCA3 lt-NES cells. DNAJB1 (upper panel) and alpha-tubulin (lower panel) protein levels were determined on western blots.
Bernd O. Evert (5608034), Johannes Jungverdorben (5608037), Frank Matthes (598149), Rohit Nalavade (4730508), Ashish Rajput (269079), Stephanie Weber (704618), Stefan Bonn (2619949), Michael Peitz (4805655), Sybille Krauß (258847), Oliver Brüstle (147363)   +9 more
core   +1 more source

Diffusion along perivascular spaces as a marker for Glymphatic system impairment in spinocerebellar Ataxia type 3

Neurobiology of Disease
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder characterized by the accumulation of polyglutamylated ATXN3 protein within neurons, which can potentially compromise the integrity of the brain's glymphatic system.
Xiao-Yue Xia, Zi-Qiang Huang, Hao-Hang Lin, Zhen-Yi Liu, Lin Zhang, Meng-Cheng Li, Yu-Qin Tu, Na-Ping Chen, Jun Ni, Qun-Lin Chen, Jian-Ping Hu, Shi-Rui Gan, Xin-Yuan Chen   +12 more
doaj   +1 more source

Generation of induced pluripotent stem cell line (ZZUi004-A) from urine sample of a patient with spinocerebellar ataxia type 3

Stem Cell Research, 2018
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG repeat expansion in the region of the ATXN3 gene. The main feature of SCA3 is progressive ataxia, which affects balance, gait, and speech.
Yanlin Wang, Changhe Shi, Zhilei Wang, Huifang Sun, Zhihua Yang, Fan Zhang, Yutao Liu, Han Liu, Chenyang Jiang, Shoutao Zhang, Yuming Xu, Xuejun Wen   +11 more
doaj   +1 more source

Generation of two induced pluripotent stem cell lines, GZHMCi009-A and GZHMCi010-A, derived from peripheral blood mononuclear cells of two SCA3 patients with 14/74 CAG repeats of the ATXN3 mutation

Stem Cell Research, 2022
Spinal cerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the result of abnormal repeat amplification of CAG of the ATXN3 gene.
Yang Yinghong, Luo Qian, Song Bing, Xie Yingjun, He Wenzhi, Chen Bangzhu, Sun Xiaofang   +6 more
doaj   +1 more source

Sleep Alterations in a Mouse Model of Spinocerebellar Ataxia Type 3

Cells, 2022
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder showing progressive neuronal loss in several brain areas and a broad spectrum of motor and non-motor symptoms, including ataxia and altered sleep.
Maria-Efstratia Tsimpanouli, Anjesh Ghimire, Anna J. Barget, Ridge Weston, Henry L. Paulson, Maria do Carmo Costa, Brendon O. Watson   +6 more
doaj   +1 more source