Results 11 to 20 of about 4,926 (176)

Cerebellar lipid dysregulation in SCA3: A comparative study in patients and mice

Neurobiology of Disease
Spinocerebellar ataxia type 3 (SCA3) is the most common dominantly inherited ataxia and belongs to the family of nine diseases caused by a polyglutamine expansion in the disease-causing protein.
Alexandra F. Putka, Varshasnata Mohanty, Stephanie M. Cologna, Hayley S. McLoughlin   +3 more
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Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice [PDF]

International Journal of Genomics, 2018
Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, external ...
Zhe Long, Tianjiao Li, Zhao Chen, Yun Peng, Chunrong Wang, Xiaocan Hou, Hongyu Yuan, Puzhi Wang, Yue Xie, Lang He, Xin Zhou, Huirong Peng, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang   +15 more
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Neurodegenerative phosphoprotein signaling landscape in models of SCA3 [PDF]

Molecular Brain, 2021
AbstractSpinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disorder resulting from an aberrant expansion of a polyglutamine stretch in the ataxin-3 protein and subsequent neuronal death. The underlying intracellular signaling pathways are currently unknown.
Sowa, Anna S., Popova, Taissia G., Harmuth, Tina, Weber, Jonasz J., Pereira Sena, Priscila, Schmidt, Jana, Hübener-Schmid, Jeannette, Schmidt, Thorsten   +7 more
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Phenotypic variance in monozygotic twins with SCA3 [PDF]

Molecular Genetics & Genomic Medicine, 2020
AbstractBackgroundSpinocerebellar ataxia type 3 (SCA3) is a hereditary neurodegenerative disorder with high clinical heterogeneity. Twin study is valuable to estimate the contributions of gene and/or environment to phenotypic variance. However, SCA3 twins were extremely sparse and rarely reported.MethodsA pair of monozygotic twins with SCA3 was ...
Hua Zhao, Lu Yang, Yi Dong, Zhi‐Ying Wu   +3 more
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Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3 [PDF]

Movement Disorders, 2022
AbstractBackgroundDisease severity in spinocerebellar ataxia type 3 (SCA3) is commonly defined by the Scale for the Assessment and Rating of Ataxia (SARA) sum score, but little is known about the contributions and progression patterns of individual items.ObjectivesTo investigate the temporal dynamics of SARA item scores in SCA3 patients and evaluate if
Maas, R.P.P.W.M., Teerenstra, S., Teerenstra, S., Lima, M., Pires, P., Almeida, L., van Gaalen, J., Timmann, D., Infante, J., Onyike, C., Bushara, K., Jacobi, H., Reetz, K., Santana, M.M., Ribeiro, J.A., Hübener-Schmid, J., de Vries, J.J.J., Synofzik, M., Schöls, L., Garcia-Moreno, H., Giunti, P., Faber, J., Klockgether, T., van de Warrenburg, B.P.C.   +23 more
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SCA3 Presenting as an Isolated Axonal Polyneuropathy [PDF]

Archives of Neurology, 2011
To highlight an unexpected clinical presentation and to review the associated polyneuropathy phenotypes of SCA3.Clinical follow-up.Neurological referral center.Middle-aged man with no family history for SCA3.Presentation with an isolated axonal, distal, symmetric, sensorimotor polyneuropathy for 6 years before developing a cerebellar syndrome prompting
Tracey D, Graves, Roberto J, Guiloff
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Impaired Oligodendrocyte Maturation Is an Early Feature in SCA3 Disease Pathogenesis [PDF]

The Journal of Neuroscience, 2021
Spinocerebellar ataxia Type 3 (SCA3), the most common dominantly inherited ataxia, is a polyglutamine neurodegenerative disease for which there is no disease-modifying therapy. The polyglutamine-encoding CAG repeat expansion in the ATXN3 gene results in expression of a mutant form of the ...
Kristen H. Schuster, Annie J. Zalon, Hongjiu Zhang, Danielle M. DiFranco, Nicholas R. Stec, Zaid Haque, Kate G. Blumenstein, Amanda M. Pierce, Yuanfang Guan, Henry L. Paulson, Hayley S. McLoughlin   +10 more
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A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes [PDF]

Molecular Neurobiology, 2021
Abstract Spinocerebellar ataxia type 3 is the most common autosomal dominant inherited ataxia worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a polyglutamine (polyQ)-expansion in the corresponding protein.
Eva Haas, Rana D. Incebacak, Thomas Hentrich, Chrisovalantou Huridou, Thorsten Schmidt, Nicolas Casadei, Yacine Maringer, Carola Bahl, Frank Zimmermann, James D. Mills, Eleonora Aronica, Olaf Riess, Julia M. Schulze-Hentrich, Jeannette Huebener-Schmid   +13 more
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Autophagy Function and Benefits of Autophagy Induction in Models of Spinocerebellar Ataxia Type 3

Cells, 2023
Background: Spinocerebellar ataxia 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by the expansion of the trinucleotide repeat region within the ATXN3/MJD gene. The presence of this genetic expansion results in
Maxinne Watchon, Luan Luu, Stuart K. Plenderleith, Kristy C. Yuan, Angela S. Laird   +4 more
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A pilot study: handgrip as a predictor in the disease progression of SCA3

Orphanet Journal of Rare Diseases, 2023
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is an inherited, autosomal, and rare neurodegenerative disease. Serum/plasma biomarkers or functional magnetic resonance imaging used to assess progression, except for neurological examinations, is either inconvenient or expensive ...
Chungmin Chiu, Wenling Cheng, Yongshiou Lin, Tatsung Lin, Huiju Chang, Yujun Chang, Chiaju Lee, Henhong Chang, Chinsan Liu   +8 more
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