Results 11 to 20 of about 26,249 (178)

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
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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 polyglutamine disorder spinocerebellar ataxia type 3 (SCA3 or Machado-Joseph disease), although these ...
Seidel, Kay, den Dunnen, Wilfred F. A., Schultz, Christian, Paulson, Henry, Frank, Stefanie, de Vos, Rob A., Brunt, Ewout R., Deller, Thomas, Kampinga, Harm H., Rueb, Udo   +9 more
openaire   +3 more sources

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
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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
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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
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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
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Event-Related Desynchronization/Synchronization in Spinocerebellar Ataxia Type 3

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
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Increased sexual arousal in patients with movement disorders

Arquivos de Neuro-Psiquiatria, 2016
Increased of sexual arousal (ISA) has been described in different neurological diseases. The purpose of this study was present a case series of ISA in patients with movement disorders.
Hélio A. G. Teive, Adriana Moro, Mariana Moscovich, Renato P. Munhoz   +3 more
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Altered retinal structure and function in Spinocerebellar ataxia type 3

Neurobiology of Disease, 2022
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine (polyQ)-encoding CAG repeat in the ATXN3 gene. Because the ATXN3 protein regulates photoreceptor ciliogenesis and phagocytosis,
Vasileios Toulis, Ricardo Casaroli-Marano, Anna Camós-Carreras, Marc Figueras-Roca, Bernardo Sánchez-Dalmau, Esteban Muñoz, Naila S. Ashraf, Ana F. Ferreira, Naheed Khan, Gemma Marfany, Maria do Carmo Costa   +10 more
doaj   +1 more source