Results 1 to 10 of about 26,249 (178)

Progressive subcortical involvement as spinocerebellar ataxia type 3 advances [PDF]

Orphanet Journal of Rare Diseases
Background and objectives Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disease characterized by heterogeneous motor and nonmotor manifestations.
Pubing Yuan, Yonghua Huang, Minghui Dai, Xin Jin, Dingxin Zheng, Die Xiao, Lihua Deng, Peiling Ou, Linfeng Shi, Yifan Chen, Jian Wang, Wei Chen, Yuanchao Zhang, Chen Liu   +13 more
doaj   +4 more sources

Abnormal eye movements in spinocerebellar ataxia type 3 [PDF]

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   +3 more sources

Supratentorial and Infratentorial Lesions in Spinocerebellar Ataxia Type 3 [PDF]

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   +3 more sources

The association between diplopia and clinical phenotypes in spinocerebellar ataxia type 3 [PDF]

BMC Neurology
Background Spinocerebellar ataxia type 3 (SCA3) is a rare monogenic hereditary neurodegenerative disease. It is the most common form of spinocerebellar ataxia worldwide, with diplopia being one of its most frequent symptoms. Diplopia has been reported to
Mei Zheng, Mao-Lin Cui, Wei Lin, Zhuo-Ying Huang, Bin Cai, Shi-Rui Gan   +5 more
doaj   +2 more sources

The cerebral metabolic topography of spinocerebellar ataxia type 3

NeuroImage: Clinical, 2018
Introduction: We aimed to uncover the pattern of network-level changes in neuronal function in Spinocerebellar ataxia type 3 (SCA3). Methods: 17 genetically-confirmed SCA3 patients and 16 controls underwent structural MRI and static resting-state [18F ...
Sanne K. Meles, Jelmer G. Kok, Bauke M. De Jong, Remco J. Renken, Jeroen J. de Vries, Jacoba M. Spikman, Aaltje L. Ziengs, Antoon T.M. Willemsen, Harm J. van der Horn, Klaus L. Leenders, Hubertus P.H. Kremer   +10 more
doaj   +3 more sources

IGFBP1 as a metabolic-neurodegenerative biomarker in spinocerebellar ataxia type 3. [PDF]

Exp Ther Med
Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder for which reliable metabolic biomarkers are lacking. Insulin-like growth factor binding protein 1 (IGFBP1), a stress-responsive protein regulated by insulin signaling, serves as an indicator of neurodegenerative burden.
Chiu C, Cheng W, Lin T, Chang H, Chang Y, Su S, Lee C, Chang H, Liu C.   +8 more
europepmc   +3 more sources

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   +3 more sources

Fatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3. [PDF]

Eur J Neurol
ABSTRACTObjectiveFatigue is a significant symptom in patients with spinocerebellar ataxia type 3 (SCA3). This study explores the role of fatigue in SCA3, examining its impact on quality of life and its potential as an indicator of disease progression.MethodsWe prospectively recruited 128 molecularly confirmed SCA3 patients and 125 sex‐, age‐, and ...
Chen ZL, Xiao LM, Li C, Qiu LL, Lin W, Ye ZX, Zhang YY, Zhu ZB, Li MC, Lin MT, Chen WJ, Wang N, Fu Y, Gan SR, OSCCAR Investigators.   +14 more
europepmc   +3 more sources

Genome editing in spinocerebellar ataxia type 3 cells improves Golgi apparatus structure [PDF]

Scientific Reports
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disease caused by repeat expansion of the CAG trinucleotide within exon 10 of the ATXN3 gene.
Yanlin Wang, Yunan Cheng, Huifang Sun, Zhuoya Wang, Na Chen, Changhe Shi, Han Liu, Jing Yang, Yuming Xu   +8 more
doaj   +2 more sources

Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report [PDF]

BMC Neurology
Background Spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease, is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in exon 10 of ATXN3.
Anli Eki, Atsuhiko Sugiyama, Kazumoto Shibuya, Yuki Nakagawa, Takayuki Ishige, Tomoki Suichi, Ryo Otani, Satoshi Kuwabara   +7 more
doaj   +2 more sources