Results 31 to 40 of about 4,926 (176)

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

Therapeutic effects of engineered exosome-based miR-25 and miR-181a treatment in spinocerebellar ataxia type 3 mice by silencing ATXN3

Molecular Medicine, 2023
Background Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant hereditary ataxia worldwide, which is however in a lack of effective treatment.
Zhenchu Tang, Shenglan Hu, Ziwei Wu, Miao He   +3 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

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

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

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations [PDF]

European Journal of Human Genetics, 2004
This pilot study was initiated to show the existence of founder effects in the Dutch autosomal dominant cerebellar ataxia (ADCA) population. The ADCAs comprise a clinically heterogeneous group of neurodegenerative disorders and the estimated prevalence in the Netherlands is approximately 3:100 000 individuals.
Verbeek, Dineke S, Piersma, Sytse J, Hennekam, Eric F A M, Ippel, Elly F, Pearson, Peter L, Sinke, Richard J   +5 more
openaire   +3 more sources

Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients. [PDF]

PLoS ONE, 2015
Spinocerebellar ataxia type 3 (SCA3), or Machado-Joseph disease (MJD), is an autosomal dominantly-inherited disease that produces progressive problems with movement. It is caused by the expansion of an area of CAG repeats in a coding region of ATXN3. The
Zhe Long, Zhao Chen, Chunrong Wang, Fengzhen Huang, Huirong Peng, Xuan Hou, Dongxue Ding, Wei Ye, Junling Wang, Qian Pan, Jiada Li, Kun Xia, Beisha Tang, Tetsuo Ashizawa, Hong Jiang   +14 more
doaj   +1 more source