Results 11 to 20 of about 27,164 (223)

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   +5 more sources

Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3 [PDF]

Annals of Neurology, 2023
Spinocerebellar ataxia type 3/Machado–Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed.
Faber, Jennifer, Santana, Magda M, Raposo, Mafalda, Giunti, Paola, Gonzalez-Robles, Cristina, Wilke, Carlo, Koyak, Berkan, Grobe-Einsler, Marcus, Schmid, Matthias, Klockgether, Thomas, Lima, Manuela, Jacobi, Heike, Onder, Demet, Garcia-Moreno, Hector, Onyike, Chiadikaobi, Riess, Olaf, Synofzik, Matthis, Berger, Moritz, Pereira de Almeida, Luís, Pinto, Maria M, Oz, Gulin, Joers, James M, Silva, Patrick, Povazan, Michal, Schols, Ludger, Reetz, Kathrin, Schmahmann, Jeremy, Manrique, Leire, van Gaalen, Judith, Thieme, Andreas, Melo, Ana Rosa Vieira, Ratai, Eva-Maria, Infante, Jon, Dogan, Imis, Schaprian, Tamara, van de Warrenburg, Bart P, Timmann, Dagmar, Hubener-Schmid, Jeannette, de Vries, Jeroen   +38 more
core   +14 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

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

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 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

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of
Hélio A. G. Teive, Adriana Moro, Walter O. Arruda, Salmo Raskin, Gladys M. G. Teive, Norberto Dallabrida, Renato P. Munhoz   +6 more
doaj   +2 more sources

Axonal inclusions in spinocerebellar ataxia type 3 [PDF]

Acta Neuropathologica, 2010
Protein aggregation is a major pathological hallmark of many neurodegenerative disorders including polyglutamine diseases. Aggregation of the mutated form of the disease protein ataxin-3 into neuronal nuclear inclusions is well described in the ...
Henry Paulson, Paulson, Henry, den Dunnen, Wilfred F. A., Harm H. Kampinga, Rob A. de Vos, Ewout R. Brunt, Thomas Deller, Frank, Stefanie, Schultz, Christian, Rueb, Udo, Stefanie Frank, den Dunnen, Wilfred F. A.; id_orcid, de Vos, Rob A., Kampinga, Harm H., Wilfred F. A. den Dunnen, Seidel, Kay, Kampinga, Harm H.; id_orcid, Udo Rüb, Kay Seidel, Christian Schultz, Deller, Thomas, Brunt, Ewout R.   +21 more
core   +4 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

Event-Related Desynchronization/Synchronization in Spinocerebellar Ataxia Type 3 [PDF]

Frontiers in Neurology, 2019
Introduction: Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant, cerebellar degeneration predominant disease caused by excessive CAG repeats. We examined event-related dysynchronization/synchronization (ERD/ERS) in patients with SCA3.Methods:
Yu Aoh, Han-Jun Hsiao, Ming-Kuei Lu, Ming-Kuei Lu, Antonella Macerollo, Hui-Chun Huang, Masashi Hamada, Chon-Haw Tsai, Chon-Haw Tsai, Jui-Cheng Chen, Jui-Cheng Chen, Jui-Cheng Chen   +11 more
doaj   +2 more sources