The progression rate of spinocerebellar ataxia type 2 changes with stage of disease

Autor: Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, on behalf of Rede Neurogenética

Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)

Abstract Background Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. We aimed to describe

Externí odkaz: https://doaj.org/article/b2f35c7d4e7949df8c841d084a80654a

Free carnitine and branched chain amino acids are not good biomarkers in Huntington's disease

Autor: Marina Coutinho Augustin, Márcia Polese-Bonatto, Gabriel Vasata Furtado, Roberta Arb Saba, Fernando Regla Vargas, José Augusto dos Santos, Orlando Graziani Povoas Barsottini, Lucas Schenatto Sena, Carmen Regla Vargas, Laura Bannach Jardim, José Luiz Pedroso, Raphael Machado de Castilhos, Luiza Paulsen Rodrigues, Henrique Ballalai Ferraz, Maria Luiza Saraiva-Pereira, Rede Neurogenética

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 78, Issue: 2, Pages: 81-87, Published: 09 MAR 2020
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Arquivos de Neuro-Psiquiatria v.78 n.2 2020
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Vol 78, Iss 2, Pp 81-87 (2020)

Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d277fd0e3b81e47f4182d9d41a82cd7f
https://pubmed.ncbi.nlm.nih.gov/32159721

Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors

Autor: Thais Lampert Monte, Marina Coutinho Augustin, Orlando Graziani Povoas Barsottini, Maria Luiza Saraiva-Pereira, Fernanda dos Santos Pereira, José Luiz Pedroso, Laura Bannach Jardim, Fernando Regla Vargas, Estela da Rosa Reckziegel, Amanda Senna Pereira dos Santos, Lucas Dorídio Locks-Coelho, Rede Neurogenética

Publikováno v: Parkinsonismrelated disorders. 42

Background Spinocerebellar ataxia type 2 (SCA2) is due to a CAG expansion (CAGexp) at ATXN2. SCA2 presents great clinical variability, alongside characteristic ataxia with saccadic slowness. Aims To study parkinsonism, dementia, dystonia, and amyotro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77f304f8ac925cd3321d36dcb5c914ea
https://pubmed.ncbi.nlm.nih.gov/28648514

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