Results 21 to 30 of about 26,249 (178)

Homozygous spinocerebellar ataxia type 3 in China: a case report

Journal of International Medical Research, 2021
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene ( ATXN3 ). However, patients with homozygous SCA3 carrying expanded CAG repeats in both alleles of ATXN3 are extremely ...
Yuchao Chen, Dan Li, Minger Wei, Menglu Zhou, Linan Zhang, Jiaoyang Yu, Mengqiu Qiu, Yi Jin, Xiaodong Lu   +8 more
doaj   +1 more source

Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report

Heliyon, 2021
Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with progressive course, and no causal therapy. Diagnostics are still challenging, due to facility and protocols, and so as in Indonesia. As a national referral center, Dr.
Siti Aminah, Fathul Huda, Uni Gamayani, Iin Pusparini, Mochammad Faisal Afif Mochyadin, Yunia Sribudiani, Norlinah Mohamed Ibrahim, Tri Hanggono Achmad   +7 more
doaj   +1 more source

Stage-dependent biomarker changes in spinocerebellar ataxia type 3

Annals of Neurology, 2023
Abstract Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3) is the most common autosomal dominant ataxia. In view of the development of targeted therapies for SCA3, precise knowledge of stage-dependent fluid and MRI biomarker changes is needed.
Jennifer, Faber, Moritz, Berger, Wilke, Carlo, Jeannette, Hübener-Schmid, Tamara, Schaprian, Magda M, Santana, Marcus, Grobe-Einsler, Dement, Onder, Berkan, Koyak, Paola, Giunti, Hector, Garcia-Moreno, Cristina, Gonzalez-Robles, Manuela, Lima, Mafalda, Raposo, Ana Rosa Vieira, Melo, Luis Pereira, de Almeida, Patrick, Silva, Maria M, Pinto, Bart P, van de Warrenburg, Judith, van Gaalen, Jeroen, de Vries, , Jeroen, Gulin, Oz, James M, Joers, Matthis, Synofzik, Ludger, Schöls, Olaf, Riess, Jon, Infante, Leire, Manrique, Dagmar, Timmann, Andreas, Thieme, Heike, Jacobi, Kathrin, Reetz, Imis, Dogan, Chiadikaobi, Onyike, Michal, Povazan, Jeremy, Schmahmann, Eva-Maria, Ratai, Matthias, Schmid, Thomas, Klockgether   +39 more
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Establish a Nomogram to Predict Falls in Spinocerebellar Ataxia Type 3

Frontiers in Neurology, 2021
Purpose: Falls are common and are frequently accompanied by injuries in patients with spinocerebellar ataxias type 3 (SCA3). We explored which factors could predict falls in a cohort of patients with SCA3 and developed a nomogram model to predict the ...
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

The Role of MicroRNAs in Spinocerebellar Ataxia Type 3

Journal of Molecular Biology, 2019
More than 90% of the human genome are transcribed as non-coding RNAs. While it is still under debate if all these non-coding transcripts are functional, there is emerging evidence that RNA has several important functions in addition to coding for proteins.
Krauss, Sybille, Evert, Bernd O
openaire   +3 more sources

Autophagy in Spinocerebellar Ataxia Type 3: From Pathogenesis to Therapeutics

International Journal of Molecular Sciences, 2023
Machado–Joseph disease (MJD) or spinocerebellar ataxia 3 (SCA3) is a rare, inherited, monogenic, neurodegenerative disease, and the most common SCA worldwide. MJD/SCA3 causative mutation is an abnormal expansion of the triplet CAG at exon 10 within the ATXN3 gene.
Paulino, Rodrigo, Nóbrega, Clévio
openaire   +3 more sources

Disease-associated oligodendrocyte signatures are spatiotemporally dysregulated in spinocerebellar ataxia type 3

Frontiers in Neuroscience, 2023
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN3 gene. Though the ATXN3 protein is expressed ubiquitously throughout the CNS, regional pathology in SCA3 patients is observed within select ...
Kristen H. Schuster, Danielle M. DiFranco, Alexandra F. Putka, Alexandra F. Putka, Juan P. Mato, Juan P. Mato, Sabrina I. Jarrah, Nicholas R. Stec, Vikram O. Sundararajan, Hayley S. McLoughlin   +9 more
doaj   +1 more source

Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia [PDF]

Cerebellum & Ataxias, 2020
AbstractSpinocerebellar ataxias (SCA) are highly heterogenous group of neurodegenerative diseases causing progressive cerebellar dysfunction. We report the first description of relative frequencies of the common SCA mutations and of phenotypic characteristics of SCA3 patients among Malaysians. Pooled data from adult Malaysian patients who had undergone
Norlinah Mohamed Ibrahim, Yue Hui Lau, Noorasyikin Ariffin, Siti Hajar Md Desa, Elena Azizan, Long Kha Chin, Shahrul Azmin Md. Rani, Yusnita Yakob, Santhi Datuk Puvanarajah, Bart van de Warrenburg   +9 more
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Clinical Findings of Type 3 Spinocerebellar Ataxia

São Paulo Medical Journal, 2021
Background: Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of progressive autosomal disorders of dominant inheritance with a gradual degeneration of the cerebellum and related pathways [1]. This leads to a movement disorder, loss of balance and coordination, accompanied by slurred speech [2].
Juliano Henrique Rocha Filho, Beatriz Brasil Braga, Kristine Leão Alarcão, Maria Teresa Aires Cabral Dias   +3 more
openaire   +1 more source

Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice

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
doaj   +1 more source