Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil

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dc.citation.issue7]
dc.citation.volume24]
dc.contributor.authorGheno, T. C.
dc.contributor.authorFurtado, G. V.
dc.contributor.authorSaute, J. A. M.
dc.contributor.authorDonis, K. C.
dc.contributor.authorFontanari, A. M. V.
dc.contributor.authorEmmel, V. E.
dc.contributor.authorPedroso, J. L. [UNIFESP]
dc.contributor.authorBarsottini, O. [UNIFESP]
dc.contributor.authorGodeiro-Junior, C.
dc.contributor.authorvan der Linden, H.
dc.contributor.authorPereira, E. Ternes
dc.contributor.authorCintra, V. P.
dc.contributor.authorMarques, W., Jr.
dc.contributor.authorde Castilhos, R. M.
dc.contributor.authorAlonso, I.
dc.contributor.authorSequeiros, J.
dc.contributor.authorCornejo-Olivas, M.
dc.contributor.authorMazzetti, P.
dc.contributor.authorLeotti, V. B.
dc.contributor.authorJardim, L. B.
dc.contributor.authorSaraiva-Pereira, M. L.
dc.coverageHoboken
dc.date.accessioned2020-06-26T16:30:29Z
dc.date.available2020-06-26T16:30:29Z
dc.date.issued2017
dc.description.abstractBackground and purpose: Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim was to describe clinical characteristics and intragenic haplotypes of patients with spinocerebellar ataxia type 10 from Brazil and Peru. Methods: Expanded alleles were detected by repeat-primed polymerase chain reaction. Disease progression was measured by the Scale for the Assessment and Rating of Ataxia, and the Neurological Examination Score for Spinocerebellar Ataxias when possible. Haplotypes were constructed based on polymorphic markers within and outside the gene. Results: Thirteen new families were diagnosed (three from Peru). Patients from three Brazilian families diagnosed previously were also reassessed. In total, 25 individuals (16 families) were evaluated. Mean (+/-SD) age at onset and disease duration were 34.8 +/- 10.2 and 12 +/- 8 years, respectively. Common findings were ataxia, dysarthria/dysphagia, nystagmus, pyramidal signs, ophthalmoparesis and seizures. No associations were found between clinical findings and geographical origins. Twelve patients living in remote regions were examined only once. In the remaining individuals, the Scale for the Assessment and Rating of Ataxia score, and Neurological Examination Score for Spinocerebellar Ataxias worsened by 0.444 (95% CI, -0.088 to 0.800) and 0.287 (95% CI, -0.061 to 0.635) points/year, respectively. A common haplotype, 19CGGC14, was found in 11/13 of Brazilian and in 1/3 of Peruvian families. Conclusions: The progression rate was slower than in other spinocerebellar ataxias. A consistently recurrent intragenic haplotype was found, suggesting a common ancestry for most, if not all, patients.en
dc.description.affiliationCtr Pesquisa Expt HCPA, Lab Identificacao Genet, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Fed Rio Grande do Sul, Programa Posgrad Genet & Biol Mol, Porto Alegre, RS, Brazil
dc.description.affiliationHCPA, Serv Genet Med, Porto Alegre, RS, Brazil
dc.description.affiliationINAGEMP, Inst Genet Med Populac, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Neurol, Div Neurol Geral, Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Neurol, Unidade Ataxia, Sao Paulo, Brazil
dc.description.affiliationUniv Fed Rio Grande do Norte, Natal, RN, Brazil
dc.description.affiliationCtr Reabilitacao Dr Henrique Santillo, Goiania, Go, Brazil
dc.description.affiliationUniv Fed Santa Catarina, Florianopolis, SC, Brazil
dc.description.affiliationUniv Sao Paulo, Ribeirao Preto, Brazil
dc.description.affiliationUniv Porto, Inst Biol Mol & Celular, UnIGENe, Oporto, Portugal
dc.description.affiliationInst Nacl Ciencias Neurol, Neurogenet Res Ctr, Lima, Peru
dc.description.affiliationUniv Fed Rio Grande do Sul, Dept Estat, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Fed Rio Grande do Sul, Dept Med Interna, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Fed Rio Grande do Sul, Dept Bioquim, Porto Alegre, RS, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Neurol, Div Neurol Geral, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Neurol, Unidade Ataxia, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e Tecnologico
dc.description.sponsorshipInstituto Nacional de Genetica Medica Populacional
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul
dc.description.sponsorshipFundo de Incentivo a Pesquisa e Eventos do HCPA
dc.description.sponsorshipCNPq
dc.description.sponsorshipIDCNPq
dc.description.sponsorshipIDINaGeMP
dc.description.sponsorshipIDFAPERGS
dc.description.sponsorshipIDFIPE-HCPA
dc.description.sponsorshipIDCNPq
dc.format.extent892-+
dc.identifierhttp://dx.doi.org/10.1111/ene.13281]
dc.identifier.citationEuropean Journal Of Neurology. Hoboken, v. 24, n. 7, p. 892-+, 2017.
dc.identifier.doi10.1111/ene.13281
dc.identifier.issn1351-5101
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/53573
dc.identifier.wosWOS:000405550300007
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofEuropean Journal Of Neurology
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectintragenic haplotypeen
dc.subjectnucleotide repeatsen
dc.subjectprogression rateen
dc.subjectspinocerebellar ataxia type 10en
dc.subjectspinocerebellar ataxiaen
dc.titleSpinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazilen
dc.typeinfo:eu-repo/semantics/article
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