The progression rate of spinocerebellar ataxia type 2 changes with stage of disease
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2018 |
| Outros Autores: | , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da UNIFESP |
| Texto Completo: | http://dx.doi.org/10.1186/s13023-017-0725-y https://repositorio.unifesp.br/handle/11600/54250 |
Resumo: | 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 the progression rate of ataxia, by the Scale for the Assessment and Rating of Ataxia (SARA), as well as the progression rate of the overall neurological picture, by the Neurological Examination Score for Spinocerebellar Ataxias (NESSCA), and not only during the study duration but also in a disease duration model. Comparisons between these models might allow us to explore whether progression is linear during the disease duration in SCA2 |
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The progression rate of spinocerebellar ataxia type 2 changes with stage of diseaseNatural historyNESSCAProgression rateSARASCAFISpinocerebellar ataxia type 2Background: 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 the progression rate of ataxia, by the Scale for the Assessment and Rating of Ataxia (SARA), as well as the progression rate of the overall neurological picture, by the Neurological Examination Score for Spinocerebellar Ataxias (NESSCA), and not only during the study duration but also in a disease duration model. Comparisons between these models might allow us to explore whether progression is linear during the disease duration in SCA2and to look for potential modifiers. Results: Eighty-eight evaluations were prospectively done on 49 symptomatic subjectson average (SD), study duration and disease duration models covered 13 (2.16) months and 14 (6.66) years of individuals' life, respectively. SARA progressed 1.75 (CI 95%: 0.92-2.57) versus 0.79 (95% CI 0.45 to 1.14) points/year in the study duration and disease duration models. NESSCA progressed 1.45 (CI 95%: 0.74-2.16) versus 0.41 (95% CI 0.24 to 0.59) points/year in the same models. In order to explain these discrepancies, the progression rates of the study duration model were plotted against disease duration. Then an acceleration was detected after 10 years of disease duration: SARA scores progressed 0.35 before and 2.45 points/year after this deadline (p = 0.013). Age at onset, mutation severity, and presence of amyotrophy, parkinsonism, dystonic manifestations and cognitive decline at baseline did not influence the rate of disease progression. Conclusions: NESSCA and SARA progression rates were not constant during disease duration in SCA2: early phases of disease were associated with slower progressions. Modelling of future clinical trials on SCA2 should take this phenomenon into account, since disease duration might impact on inclusion criteria, sample size, and study duration. Our database is available online and accessible to future studies aimed to compare the present data with other cohorts.Hosp Clin Porto Alegre, Serv Neurol, Porto Alegre, RS, BrazilHosp Clin Porto Alegre, Serv Genet Med, Rua Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS, BrazilHosp Clin Porto Alegre, Lab Identificacao Genet, Porto Alegre, RS, BrazilHosp Clin Porto Alegre, Grp Pesquisa & Posgrad, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Dept Estat, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Dept Med Interna, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Dept Bioquim, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Programa Posgrad Ciencias Med, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Programa Posgrad Genet & Biol Mol, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Programa Posgrad Epidemiol, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Fac Med, Porto Alegre, RS, BrazilUniv Fed Sao Paulo, Setor Neurol Geral & Ataxias, Disciplina Neurol Clin, UNIFESP Escola Paulista Med, Sao Paulo, BrazilFundacao Oswaldo Cruz, Lab Epidemiol Malformacoes Congenitas, Rio De Janeiro, BrazilUniv Fed Estado Rio de Janeiro, Dept Genet & Biol Mol, Rio De Janeiro, Brazilnst Nacl Genet Med Populac, Rio De Janeiro, BrazilUniv Fed Sao Paulo, Setor Neurol Geral & Ataxias, Disciplina Neurol Clin, UNIFESP Escola Paulista Med, Sao Paulo, BrazilWeb of ScienceCNPq - Conselho Nacional de Desenvolvimento Cientifico e Tecnologico [78,057/2012-1]FIPE-HCPA - Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre [GPPG HCPA 12-0357, 12-0396]CNPq: 78,057/2012-1]FIPE-HCPA: GPPG HCPA 12-0357, 12-0396Biomed Central Ltd2020-07-08T13:09:51Z2020-07-08T13:09:51Z2018info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion-application/pdfhttp://dx.doi.org/10.1186/s13023-017-0725-yOrphanet Journal Of Rare Diseases. London, v. 13, p. -, 2018.10.1186/s13023-017-0725-yWOS000423688500001.pdf1750-1172https://repositorio.unifesp.br/handle/11600/54250WOS:000423688500001engOrphanet Journal Of Rare DiseasesLondoninfo:eu-repo/semantics/openAccessMonte, Thais LampertReckziegel, Estela da RosaAugustin, Marina CoutinhoLocks-Coelho, Lucas D.Santos, Amanda Senna P.Furtado, Gabriel Vasatade Mattos, Eduardo PreusserPedroso, Jose Luiz [UNIFESP]Barsottini, Orlando Povoas [UNIFESP]Vargas, Fernando ReglaSaraiva-Pereira, Maria-LuizaCamey, Suzi AlvesLeotti, Vanessa BielefeldtJardim, Laura Bannachreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-07-28T15:23:43Zoai:repositorio.unifesp.br/:11600/54250Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-07-28T15:23:43Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
| dc.title.none.fl_str_mv |
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease |
| title |
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease |
| spellingShingle |
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease Monte, Thais Lampert Natural history NESSCA Progression rate SARA SCAFI Spinocerebellar ataxia type 2 |
| title_short |
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease |
| title_full |
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease |
| title_fullStr |
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease |
| title_full_unstemmed |
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease |
| title_sort |
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease |
| author |
Monte, Thais Lampert |
| author_facet |
Monte, Thais Lampert Reckziegel, Estela da Rosa Augustin, Marina Coutinho Locks-Coelho, Lucas D. Santos, Amanda Senna P. Furtado, Gabriel Vasata de Mattos, Eduardo Preusser Pedroso, Jose Luiz [UNIFESP] Barsottini, Orlando Povoas [UNIFESP] Vargas, Fernando Regla Saraiva-Pereira, Maria-Luiza Camey, Suzi Alves Leotti, Vanessa Bielefeldt Jardim, Laura Bannach |
| author_role |
author |
| author2 |
Reckziegel, Estela da Rosa Augustin, Marina Coutinho Locks-Coelho, Lucas D. Santos, Amanda Senna P. Furtado, Gabriel Vasata de Mattos, Eduardo Preusser Pedroso, Jose Luiz [UNIFESP] Barsottini, Orlando Povoas [UNIFESP] Vargas, Fernando Regla Saraiva-Pereira, Maria-Luiza Camey, Suzi Alves Leotti, Vanessa Bielefeldt Jardim, Laura Bannach |
| author2_role |
author author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Monte, Thais Lampert Reckziegel, Estela da Rosa Augustin, Marina Coutinho Locks-Coelho, Lucas D. Santos, Amanda Senna P. Furtado, Gabriel Vasata de Mattos, Eduardo Preusser Pedroso, Jose Luiz [UNIFESP] Barsottini, Orlando Povoas [UNIFESP] Vargas, Fernando Regla Saraiva-Pereira, Maria-Luiza Camey, Suzi Alves Leotti, Vanessa Bielefeldt Jardim, Laura Bannach |
| dc.subject.por.fl_str_mv |
Natural history NESSCA Progression rate SARA SCAFI Spinocerebellar ataxia type 2 |
| topic |
Natural history NESSCA Progression rate SARA SCAFI Spinocerebellar ataxia type 2 |
| description |
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 the progression rate of ataxia, by the Scale for the Assessment and Rating of Ataxia (SARA), as well as the progression rate of the overall neurological picture, by the Neurological Examination Score for Spinocerebellar Ataxias (NESSCA), and not only during the study duration but also in a disease duration model. Comparisons between these models might allow us to explore whether progression is linear during the disease duration in SCA2 |
| publishDate |
2018 |
| dc.date.none.fl_str_mv |
2018 2020-07-08T13:09:51Z 2020-07-08T13:09:51Z |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1186/s13023-017-0725-y Orphanet Journal Of Rare Diseases. London, v. 13, p. -, 2018. 10.1186/s13023-017-0725-y WOS000423688500001.pdf 1750-1172 https://repositorio.unifesp.br/handle/11600/54250 WOS:000423688500001 |
| url |
http://dx.doi.org/10.1186/s13023-017-0725-y https://repositorio.unifesp.br/handle/11600/54250 |
| identifier_str_mv |
Orphanet Journal Of Rare Diseases. London, v. 13, p. -, 2018. 10.1186/s13023-017-0725-y WOS000423688500001.pdf 1750-1172 WOS:000423688500001 |
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eng |
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eng |
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Orphanet Journal Of Rare Diseases |
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info:eu-repo/semantics/openAccess |
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openAccess |
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- application/pdf |
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London |
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Biomed Central Ltd |
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Biomed Central Ltd |
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reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
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Universidade Federal de São Paulo (UNIFESP) |
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UNIFESP |
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UNIFESP |
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Repositório Institucional da UNIFESP |
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Repositório Institucional da UNIFESP |
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Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
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biblioteca.csp@unifesp.br |
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1814268324550279168 |