Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes

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dc.contributor.author Barsottini, Orlando Graziani Povoas [UNIFESP]
dc.contributor.author Felício, André Carvalho [UNIFESP]
dc.contributor.author Aguiar, Patricia de Carvalho [UNIFESP]
dc.contributor.author Godeiro-Junior, Clecio [UNIFESP]
dc.contributor.author Shih, Ming C. [UNIFESP]
dc.contributor.author Hoexter, Marcelo Queiroz [UNIFESP]
dc.contributor.author Bressan, Rodrigo Affonseca [UNIFESP]
dc.contributor.author Ferraz, Henrique B. [UNIFESP]
dc.contributor.author Andrade, Luiz Augusto Franco de [UNIFESP]
dc.date.accessioned 2015-06-14T13:39:06Z
dc.date.available 2015-06-14T13:39:06Z
dc.date.issued 2009-03-01
dc.identifier http://dx.doi.org/10.1590/S0004-282X2009000100003
dc.identifier.citation Arquivos de Neuro-Psiquiatria. Academia Brasileira de Neurologia - ABNEURO, v. 67, n. 1, p. 7-11, 2009.
dc.identifier.issn 0004-282X
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/4908
dc.description.abstract OBJECTIVE: To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes. METHOD: A total of 119 patients meeting clinical criteria for PD were evaluated. RESULTS: Of all patients studied, 13 had mutations in either PARK2 (n=9) or PARK8 genes (n=4). No statistically significant differences in clinical characteristics in both groups were seen. SPECT with [99mTc] TRODAT-1 showed significant differences between patient and control and the most remarkable difference was between PARK2 and control. CONCLUSION: The study found a frequency of mutation of 10.1% and it was most commonly seen in women. These patients had long disease course and high rates of dyskinesia after L-DOPA use. PARK8 patients did not have a relevant family history of PD. en
dc.description.abstract OBJETIVO: Descrever as características clínicas e de neuroimagem (SPECT) de pacientes brasileiros com doença de Parkinson e mutações PARK2 e PARK8. MÉTODO: Foram avaliados 119 pacientes com critérios clínicos para a doença de Parkinson. RESULTADO: Entre os pacientes avaliados foram encontrados 13 pacientes com mutação nos genes PARK2 (n=9) ou PARK8 (n=4). Não houve diferença significativa na avaliação das características clínicas entre os dois grupos. Os resultados de SPECT mostraram diferenças significativas quanto ao potencial de ligação do [99mTc] TRODAT-1 SPECT entre pacientes vs. controle, sendo a diferença mais pronunciada entre PARK2 e controle. CONCLUSÃO: A freqüência de mutação encontrada foi 10,1%, sendo mais comum em mulheres. Estes pacientes apresentavam longo tempo de doença e alta prevalência de discinesias associadas ao uso da levodopa. Nossos pacientes com PARK8 não apresentaram uma história familiar relevante de doença de Parkinson. pt
dc.format.extent 7-11
dc.language.iso eng
dc.publisher Academia Brasileira de Neurologia - ABNEURO
dc.relation.ispartof Arquivos de Neuro-Psiquiatria
dc.rights Acesso aberto
dc.subject Parkinson's disease en
dc.subject PARK2 en
dc.subject PARK8 en
dc.subject SPECT en
dc.subject doença de Parkinson pt
dc.subject PARK2 pt
dc.subject PARK8 pt
dc.subject SPECT pt
dc.title Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes en
dc.title.alternative Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8 pt
dc.type Artigo
dc.contributor.institution Hospital Israelita Albert Einstein Instituto Israelita de Ensino e Pesquisa
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Hospital Israelita Albert Einstein Instituto Israelita de Ensino e Pesquisa
dc.description.affiliation Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Division of Movement Disorders
dc.description.affiliation UNIFESP-EPM Laboratório Interdisciplinar de Neurociências Clínicas
dc.description.affiliationUnifesp UNIFESP, EPM, Division of Movement Disorders
dc.description.affiliationUnifesp UNIFESP, EPM Laboratório Interdisciplinar de Neurociências Clínicas
dc.identifier.file S0004-282X2009000100003.pdf
dc.identifier.scielo S0004-282X2009000100003
dc.identifier.doi 10.1590/S0004-282X2009000100003
dc.description.source SciELO
dc.identifier.wos WOS:000264693900003



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