CLINICAL AND MOLECULAR NEUROIMAGING CHARACTERISTICS OF BRAZILIAN PATIENTS WITH PARKINSON'S DISEASE AND MUTATIONS IN PARK2 OR PARK8 GENES

被引：11

作者：

Barsottini, Orlando G. P. ^{[1
,2
]}

Felicio, Andre C. ^{[1
,2
,3
]}

Aguiar, Patricia de Carvalho ^{[1
,2
]}

Godeiro-Junior, Clecio ^{[1
,2
]}

Shih, Ming C. ^{[1
,3
]}

Hoexter, Marcelo Q. ^{[1
,3
]}

Bressan, Rodrigo A. ^{[1
,3
]}

Ferraz, Henrique B. ^{[2
]}

Andrade, Luiz Augusto F. ^{[1
]}

机构：

[1] HIAE, IIEP, Sao Paulo, Brazil

[2] Univ Fed Sao Paulo, EPM, Div Movement Disorders, Sao Paulo, Brazil

[3] Univ Fed Sao Paulo, EPM, LiNC, Sao Paulo, Brazil

来源：

ARQUIVOS DE NEURO-PSIQUIATRIA | 2009年 / 67卷 / 01期

关键词：

Parkinson's disease; PARK2; PARK8; SPECT;

D O I：

10.1590/S0004-282X2009000100003

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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 [Tc-99] 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.

引用

页码：7 / 11

页数：5

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