RESUMO
Among 367 subjects, the authors analyzed 167 patients with essential tremor, sporadic progressive cerebellar ataxia, multiple-system atrophy, and atypical parkinsonism and 200 healthy control subjects for FMR1 premutation alleles. None of the subjects carried alleles within the premutation range. These findings suggest that in the absence of other supportive clinical or imaging features, the cost-effectiveness of routine fragile X tremor/ataxia syndrome screening in this Asian cohort with movement disorders was low.
Assuntos
Síndrome do Cromossomo X Frágil/genética , Transtornos dos Movimentos/genética , Proteínas do Tecido Nervoso/genética , Proteínas de Ligação a RNA/genética , Adulto , Idoso , Alelos , Encéfalo/patologia , Ataxia Cerebelar/epidemiologia , Ataxia Cerebelar/genética , Ataxia Cerebelar/patologia , Estudos de Coortes , Análise Custo-Benefício , Análise Mutacional de DNA , Tremor Essencial/epidemiologia , Tremor Essencial/genética , Tremor Essencial/patologia , Feminino , Proteína do X Frágil da Deficiência Intelectual , Síndrome do Cromossomo X Frágil/epidemiologia , Síndrome do Cromossomo X Frágil/patologia , Testes Genéticos/economia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/epidemiologia , Transtornos dos Movimentos/patologia , Atrofia de Múltiplos Sistemas/epidemiologia , Atrofia de Múltiplos Sistemas/genética , Atrofia de Múltiplos Sistemas/patologia , Doença de Parkinson/epidemiologia , Doença de Parkinson/genética , Doença de Parkinson/patologia , Singapura/epidemiologia , Repetições de TrinucleotídeosRESUMO
Dopaminergic dysfunction is associated with thyroid disorders and restless legs syndrome (RLS). In a 'face-to-face' interview, we evaluated for RLS using the diagnostic criteria of the International Restless Legs Syndrome Study Group (IRLSSG) in patients diagnosed biochemically with either hyper- or hypothyroidism, and in controls without thyroid disorders. Amongst 146 consecutive patients with biochemically confirmed thyroid disorders, none satisfied all the IRLSSG criteria of RLS, similar to the control population (0.2%, 1/434). However, we found 8.2% (12/146) with RLS-like symptoms (satisfied the first 3 IRLSSG criteria) compared to 0.9% (4/434) in the controls (p < 0.0001). Four (33.3%) of these patients reported complete resolution of these symptoms after treatment for their thyroid condition. In conclusion, while RLS-like symptoms were observed in some patients with thyroid disorders, our study demonstrates no significant difference of RLS prevalence between patients with thyroid disorders and euthyroid controls.
Assuntos
Síndrome das Pernas Inquietas/diagnóstico , Doenças da Glândula Tireoide/diagnóstico , Adolescente , Adulto , Idoso , Assistência Ambulatorial/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Síndrome das Pernas Inquietas/complicações , Síndrome das Pernas Inquietas/epidemiologia , Doenças da Glândula Tireoide/complicações , Doenças da Glândula Tireoide/epidemiologiaRESUMO
The authors examined four- and six-loci haplotype constructs (from five single nucleotide polymorphisms and three microsatellite regions) of the alpha-synuclein gene in patients with Parkinson's disease (PD) and controls in an ethnic Chinese population. Logistic regression analysis demonstrated an association of NACP-Rep1 (p = 0.002) and L478 (p < 0.0001) with risk of PD after correction for the effects of age, sex, and the other polymorphic loci. Specific four-loci and six-loci haplotypes were significantly associated with an increased or decreased risk of PD.
Assuntos
Predisposição Genética para Doença , Haplótipos , Proteínas do Tecido Nervoso/genética , Doença de Parkinson/genética , Polimorfismo Genético/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , China/etnologia , Feminino , Humanos , Incidência , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Método de Monte Carlo , Razão de Chances , Doença de Parkinson/epidemiologia , Medição de Risco , Singapura/epidemiologia , Sinucleínas , alfa-SinucleínaRESUMO
INTRODUCTION: Few studies have examined the relationship of coffee and tea in Parkinson's disease (PD). The potential protective effect of coffee intake and risk of PD has not been studied in a Chinese population. There is a high prevalence of caffeine takers among Chinese in our population. OBJECTIVE: We undertook a case control study to examine the relationship between coffee and tea drinking, cigarette smoking, and other enviromental factors and risk of PD among ethnic Chinese in our population. METHODS AND RESULTS: 300 PD and 500 population controls were initially screened. Two hundred case control pairs matched for age, gender, and race were finally included in the analysis. Univariate analysis revealed significant association of PD with coffee drinking (p<0.0005), tea drinking (p=0.019), alcohol drinking (p=0.001), cigarette smoking (p<0.0005), and exposure to heavy metals (p=0.006). Conditional logistic regression analysis demonstrated that amount of coffee drunk (OR 0.787, 95%CI 0.664-0.932, p=0.006), amount of tea drunk (OR 0.724, 95%CI 0.559-0.937, p=0.014), number of cigarettes smoked (OR 0.384, 95%CI 0.204-0.722, p=0.003), history of heavy metal and toxin exposure (OR 11.837, 95%CI 1.075-130.366, p=0.044), and heart disease (OR 5.518, 95%CI 1.377-22.116, p=0.016) to be significant factors associated with PD. One unit of coffee and tea (3 cups/day for 10 years) would lead to a 22% and 28% risk reduction of PD. One unit of cigarette smoke (3 packs/day for 10 years) reduced the risk of PD by 62%. CONCLUSIONS: We demonstrated a dose-dependent protective effect of PD in coffee and tea drinkers and smokers in an ethnic Chinese population. A history of exposure to heavy metals increased the risk of PD, supporting the multifactorial etiologies of the disease.
Assuntos
Café/metabolismo , Fármacos Neuroprotetores/farmacologia , Doença de Parkinson/prevenção & controle , Fumar/metabolismo , Chá/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Povo Asiático , Cafeína/farmacologia , Estudos de Casos e Controles , China/etnologia , Relação Dose-Resposta a Droga , Exposição Ambiental/efeitos adversos , Feminino , Humanos , Masculino , Metais Pesados/efeitos adversos , Pessoa de Meia-Idade , Nicotina/farmacologia , Razão de Chances , Doença de Parkinson/epidemiologia , Doença de Parkinson/etnologia , Fatores de Risco , Singapura/epidemiologia , Fumar/epidemiologia , Estatística como AssuntoRESUMO
Cigarette smoking is associated with reduced monoamine oxidase B (MAO B) activity. Polymorphisms of the MAO B gene may modify the relationship between smoking and Parkinson's Disease (PD). We examined the association of MAO B intron 13 G/A polymorphism and risk of PD, and the modulation of the polymorphism on smoking and PD in an Asian study population in Singapore. Two hundred and thirty PD patients (mean age 66.0 +/- 9.4 years, 63% men) and 241 age, gender, and race matched controls (mean age 64 +/- 9.2 years, 58.9% males) were studied. The frequency of G and A alleles in PD and controls was; 66/315 (21.0%) vs. 73/340 (21.5%) and 249/315 (79.0%) vs. 267/340 (78.5%). For women, the genotype frequency in PD and controls was; GG: 7/85 (8.2%) vs. 8/99 (8.1%); GA: 25/85 (29.4%) vs. 27/99 (27.3%); AA: 53/85 (62.4%) vs. 64/99 (64.6%). For men, allele frequency in PD and controls was; A: 118/145 (81.4%) vs. 112/142 (78.9%) and G: 27/145 (18.6%) vs. 30/142 (21.1%). The allele and genotype frequencies were not significantly different between young and late onset PD. The frequency of "ever" smokers in PD and controls was 31/230 (13.5%) vs. 52/241 (21.6%), P = 0.02. A stepwise logistic regression analysis did not reveal any interaction of smoking and the G allele and risk of PD. The MAO B G/A genotype frequency in our Asian population was quite different from Caucasians suggesting that ethnicity specific effects need to be considered in evaluating gene-environmental interaction.
Assuntos
Monoaminoxidase/genética , Doença de Parkinson/genética , Polimorfismo Genético , Fumar/genética , Idoso , Povo Asiático , Feminino , Frequência do Gene , Genética Populacional , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/enzimologia , Fatores de Risco , SingapuraAssuntos
Mitocôndrias/genética , NADH NADPH Oxirredutases/genética , Doença de Parkinson/genética , Polimorfismo Genético/genética , Fumar/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Complexo I de Transporte de Elétrons , Feminino , Frequência do Gene/genética , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
The authors found a significantly higher prevalence of daytime somnolence in 201 patients with PD compared with 214 age- and sex-matched healthy control subjects (Epworth Sleepiness Scale score 5.6 vs 4.6). The prevalence of "sleep attacks" (SA) was about seven times higher in patients with PD than in control subjects (13.9% vs 1.9%; p < 0.0005). Multivariate analysis demonstrated that a higher dose of levodopa and longer duration of disease significantly predicted for SA in patients with PD. Epworth Sleepiness Scale scores of > or =10 had 71.4% sensitivity and 88.4% specificity for SA.
