Results 21 to 30 of about 27,164 (223)

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

The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3 [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited form of ataxia that leads to progressive neurodegeneration. The initial symptoms could affect clinical phenotypes in neurodegenerative diseases, such as Parkinson's disease and ...
Hao‐Ling Xu, Qiu‐Ni Su, Xian‐Jin Shang, Arif Sikandar, Min‐Ting Lin, Ning Wang, Hong Lin, Shi‐Rui Gan   +7 more
doaj   +3 more sources

A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III

Journal of Aziz Fatimah Medical and Dental College, 2023
Machado-Joseph Disease, also known as Spinocerebellar Ataxia Type III, was initially described in patients of Azorean heritage as a neurodegenerative disease but is now known to occur globally.
Muhammad Sohail Ajmal Ghoauri , Nauman Ismat Butt, Dur-e-Sabeeh, Muhammad Bilal Rasheed, Muhammad Umair Javed, Fahmina Ashfaq   +5 more
doaj   +1 more source

IGF-1 as a Potential Therapy for Spinocerebellar Ataxia Type 3

Biomedicines, 2022
Although the effects of growth hormone (GH) therapy on spinocerebellar ataxia type 3 (SCA3) have been examined in transgenic SCA3 mice, it still poses a nonnegligible risk of cancer when used for a long term. This study investigated the efficacy of IGF-1,
Yong-Shiou Lin, Wen-Ling Cheng, Jui-Chih Chang, Ta-Tsung Lin, Yi-Chun Chao, Chin-San Liu   +5 more
doaj   +1 more source

Preclinical Assessment of Mesenchymal-Stem-Cell-Based Therapies in Spinocerebellar Ataxia Type 3

Biomedicines, 2021
The low regeneration potential of the central nervous system (CNS) represents a challenge for the development of new therapeutic strategies for neurodegenerative diseases, including spinocerebellar ataxias. Spinocerebellar ataxia type 3 (SCA3)—or Machado–
Joana Sofia Correia, Andreia Neves-Carvalho, Bárbara Mendes-Pinheiro, Joel Pires, Fábio Gabriel Teixeira, Rui Lima, Susana Monteiro, Nuno André Silva, Carina Soares-Cunha, Sofia Cravino Serra, Sara Duarte-Silva, Andreia Teixeira-Castro, António José Salgado, Patrícia Maciel   +13 more
doaj   +1 more source

Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3)

American Journal of Ophthalmology Case Reports, 2022
Purpose: To describe a case of incomitant divergence insufficiency esotropia in the setting of Machado-Joseph disease (spinocerebellar ataxia type 3) that recurred completely within one week after augmented bilateral medial rectus recession. Observations:
Jeannette Y. Stallworth, Nailyn Rasool, Maanasa Indaram   +2 more
doaj   +1 more source

Teaching NeuroImages: Retinopathy in spinocerebellar ataxia type 3 [PDF]

Neurology, 2020
A 17-year-old African Brazilian woman presented with a 1-year history of progressive ataxia, dysarthria, and decreased visual acuity. Family history was remarkable for multiple relatives with similar motor symptoms but no visual complaints. Examination showed upward gaze palsy, dysarthria, ataxia, and increased tone and reflexes.
Fábio A. Nascimento, Matheus G. Ferreira, Naoye Shiokawa, Mario T. Sato, Hélio A.G. Teive   +4 more
openaire   +2 more sources

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

Clinics, 2012
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Hélio A. G. Teive, Renato P. Munhoz, Walter O. Arruda, Iscia Lopes-Cendes, Salmo Raskin, Lineu C. Werneck, Tetsuo Ashizawa   +6 more
doaj   +1 more source

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Georg Auburger, Hans-Joachim Freund, Rodríguez-Labrada, Roberto, Auburger, Georg, Freund, Hans-Joachim, Velázquez-Pérez, Luis, Roberto Rodrguez-Labrada, Luis Velázquez-Pérez, Luis Velzquez-Prez, Roberto Rodríguez-Labrada   +9 more
core   +1 more source