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

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

Alternative title Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8
Author Barsottini, Orlando Graziani Povoas Autor UNIFESP Google Scholar
Felício, André Carvalho Autor UNIFESP Google Scholar
Aguiar, Patricia de Carvalho Autor UNIFESP Google Scholar
Godeiro-Junior, Clecio Autor UNIFESP Google Scholar
Shih, Ming C. Autor UNIFESP Google Scholar
Hoexter, Marcelo Queiroz Autor UNIFESP Google Scholar
Bressan, Rodrigo Affonseca Autor UNIFESP Google Scholar
Ferraz, Henrique B. Autor UNIFESP Google Scholar
Andrade, Luiz Augusto Franco de Autor UNIFESP Google Scholar
Institution Hospital Israelita Albert Einstein Instituto Israelita de Ensino e Pesquisa
Universidade Federal de São Paulo (UNIFESP)
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.

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.
Keywords Parkinson's disease
PARK2
PARK8
SPECT
doença de Parkinson
PARK2
PARK8
SPECT
Language English
Date 2009-03-01
Published in Arquivos de Neuro-Psiquiatria. Academia Brasileira de Neurologia - ABNEURO, v. 67, n. 1, p. 7-11, 2009.
ISSN 0004-282X (Sherpa/Romeo, impact factor)
Publisher Academia Brasileira de Neurologia - ABNEURO
Extent 7-11
Origin http://dx.doi.org/10.1590/S0004-282X2009000100003
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000264693900003
SciELO ID S0004-282X2009000100003 (statistics in SciELO)
URI http://repositorio.unifesp.br/handle/11600/4908

Show full item record




File

Name: S0004-282X2009000100003.pdf
Size: 226.0Kb
Format: PDF
Description:
Open file

This item appears in the following Collection(s)

Search


Browse

Statistics

My Account