RESUMO
OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). METHODS: We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed- and random-effects models were used to estimate the summary risk estimates for the genes. We investigated between-study heterogeneity and heterogeneity between different ethnic populations. RESULTS: We did not observe any definite pathogenic repeat expansions for SCA2, SCA3, SCA6, and SCA17 genes in patients with idiopathic PD from Caucasian and Asian populations. Furthermore, overall analysis did not reveal any significant association between intermediate repeats and PD. The effect estimates (odds ratio) ranged from 0.93 to 1.01 in the overall cohort for the SCA2, SCA3, SCA6, and SCA17 loci. CONCLUSIONS: Our study did not support a major role for definite pathogenic repeat expansions in SCA2, SCA3, SCA6, and SCA17 genes for idiopathic PD. Thus, results of this large study do not support diagnostic screening of SCA2, SCA3, SCA6, and SCA17 gene repeats in the common idiopathic form of PD. Likewise, this largest multicentered study performed to date excludes the role of intermediate repeats of these genes as a risk factor for PD.
Assuntos
Frequência do Gene/genética , Predisposição Genética para Doença , Doença de Parkinson/genética , Peptídeos/genética , Expansão das Repetições de Trinucleotídeos/genética , Idoso , Ataxinas/genética , Ataxinas/metabolismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Doença de Parkinson/epidemiologia , Fenótipo , RiscoRESUMO
OBJECTIVES: Many patients with Parkinson's disease (PD) often utilize complementary and alternative medicine (CAM). We aimed to survey the prevalence, spectrum of use, and factors related to utilization of CAM in patients with PD in Korea. PATIENTS AND METHODS: Between 15 December 2005 and 30 April 2006, we studied 123 patients with PD who volunteered to be interviewed using semi-structured questionnaires. RESULTS: Ninety-four (76%) patients had used CAM. The mean cost of CAM paid by patients (out-of-pocket costs) was 102.3 US Dollars (USD) per month, while medical costs of treatment for PD paid by patients (out-of-pocket costs) averaged 72.8 USD per month. Patients using CAM sought to improve motor symptoms (57.6%), fatigue (19.6%), pain (4.3%), constipation (5.4%) or specified no single reason (13.0%). The spectrum of CAM use included oriental medicines (76.6%), traditional food (44.7%), non-prescribed drugs (31.9%), traditional therapies (7.4%), massage (7.4%) and behavioral therapy (7.4%). Factors related to current use of CAM were disease duration, degree of education, and daily levodopa equivalent dose. In a logistic regression analysis, the duration of PD was a significant factor for CAM use. CONCLUSIONS: These results suggest that a high proportion of Korean PD patients employed CAM, associated with high costs and serious side effects in some patients.