Epidemiology of Dystonia in a Multi-Ethnic Population

多民族人群肌张力障碍的流行病学

• 批准号: 7469952
• 负责人: Caroline M. Tanner
• 金额: $ 88.43万
• 依托单位: PARKINSON'S INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-09-23 至 2010-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7469952
• 关键词: Accounting; Address; Adult; Affect; Age; Basic Science; Blepharospasm; California; Caring; Case-Control Studies; Censuses; Cephalic; Cervical; Clinic; Clinical; Collection; Confounding Factors (Epidemiology); Consensus; Consent; DYT1 gene; Diagnosis; Disease; Dystonia; Dystonia Musculorum Deformans; Enrollment; Environmental Exposure; Environmental Risk Factor; Epidemiologic Studies; Epidemiology; Ethnic Origin; Event; Family; Family Study; Family history of; Family member; Fever; First Degree Relative; Focal Dystonias; Foundations; Frequencies; Future; Gender; Gene Mutation; Genes; Genetic; Genetic Determinism; Genetic Predisposition to Disease; Goals; Hand; Health; Health Maintenance Organizations; Health Planning; Health Services Accessibility; Heat shock proteins; Hobbies; Incidence; Incidence Study; Individual; Infection; Interview; Investigation; Knowledge; Larynx; Lead; Life Style; Limb structure; Longevity; Maintenance; Measures; Medical; Meige Syndrome; Methods; Molecular Genetics; Movement; Movement Disorders; Muscle; Muscle Contraction; Mutation; Neurodegenerative Disorders; Newly Diagnosed; Numbers; Occupations; Operative Surgical Procedures; Patient Self-Report; Patients; Pattern; Penetrance; Physical activity; Play; Population; Population Control; Population Heterogeneity; Posture; Prevalence; Primary Dystonias; Principal Investigator; Proteins; Race; Recording of previous events; Records; Relative (related person); Research; Research Design; Research Personnel; Resources; Risk; Risk Factors; Role; Sampling; Sensitivity and Specificity; Site; Smoking History; Socioeconomic Status; Source; Spasmodic torticollis; Spastic Dysphonias; Subgroup; Testing; Time; Trauma; Variant; Work; Writer' s cramp neurosis; base; case control; cigarette smoking; cohort; computerized; disability; disorder subtype; early onset; genetic analysis; insight; instrument; member; programs; response; trend

DESCRIPTION (provided by applicant): Dystonia is a disabling neurodegenerative disease that causes sustained involuntary muscle contractions, producing twisting, repetitive and patterned movements or abnormal postures. While it is the third most common movement disorder, little is known about ethnic or racial variation in the occurrence of dystonia or about risk factors. To address this problem, we will establish a dystonia incident cohort identified from among approximately 3 million individuals in a large, multiethnic (~40% non-white) health maintenance organization. We expect to identify at least 1000 incident cases of primary torsion dystonia (PTD). This will constitute by far the largest population of PTD patients ever enrolled in an epidemiologic study and will provide the foundation for addressing, for the first time, a number of questions regarding the epidemiology of dystonia. The first aim of this application is to estimate the incidence and prevalence of PTD overall and for clinically-defined subtypes (including generalized, cranial, cervical, limb and laryngeal dystonias). Incidence and prevalence within groups will be estimated by age, gender and race/ethnicity. This will be the first epidemiologic study of PTD of all types in a racially and ethnically diverse population. The second aim will be to investigate familial aggregation of dystonia in cases and controls, as measured by validated family history interviews, and to determine if this varies by subtype of dystonia and ethnicity. The third aim is to determine the frequency of the DYT1 mutation, associated with PTD, within groups defined by ethnicity and clinical features. Aim 4 is to investigate the role of environmental exposures that may influence the expression of dystonia and the penetrance of the known gene (DYT1), including specific antecedent health events (trauma, infection) or lifestyle factors (occupation, hobbies, cigarette smoking, physical activity) by comparing the frequency of these events before dystonia onset in cases and approximately 1000 matched controls. This will be the first investigation of the incidence, prevalence, and associated risk factors of PTD in-a large unselected multiethnic population. It will be the largest population of PTD ever studied epidemiologically. Advantages of the study setting include: (1) it is demographically similar to the underlying population of northern California, (2) access to care is unrestricted, reducing biased ascertainment, (3) a large control population is available and (4) certain health-related risk factors can be identified through computerized records, minimizing recall bias. These investigations have the potential to provide significant insights into the determinants of dystonia. In addition, this cohort will provide a rich resource for future investigations including family studies, genetic analyses and further investigations of environmental risk factors.

描述（由申请人提供）：肌张力障碍是一种致命的神经退行性疾病，会导致持续的非自愿性肌肉收缩，产生扭曲，重复和图案化运动或异常姿势。虽然它是第三种常见的运动障碍，但对肌张力障碍或危险因素的种族或种族差异知之甚少。为了解决这个问题，我们将在大约300万个人中确定一个大型，多种族（约40％的非白人）健康维护组织中发现的肌张力障碍事件队列。我们希望至少确定1000例原发性扭曲肌张力障碍（PTD）。这将构成迄今为止最大的PTD患者人群，该患者有史以来参加一项流行病学研究，并将为第一次解决有关肌张力障碍的流行病学的许多问题提供基础。该应用的第一个目的是估计PTD总体和临床定义的亚型的发病率和患病率（包括广义，颅，颈，肢体，肢体和喉肌张力蛋白肌张力植物）。组内的发病率和流行将由年龄，性别和种族/种族估算。这将是种族和种族多元化种群中所有类型的PTD的首次流行病学研究。第二个目的是通过经过验证的家族史访谈来衡量的病例和对照中的肌张力障碍的家族性聚集，并确定这是否取决于肌张力障碍和种族的亚型。第三个目的是确定由种族和临床特征定义的组内的Dyt1突变（与PTD相关的频率）。 AIM 4是研究可能影响肌张力障碍表达和已知基因（DYT1）的外观的环境暴露的作用，包括特定的先行健康事件（创伤，感染）或生活方式因素（占用，霍比斯，吸烟，吸烟，体育活动），通过比较这些事件的频率，并在pysonia of the inters of the inters of the inters of cytonia of the inter in inte inte and of contects and these and of contects and in contects and in cote and of Contered和大约000匹配的匹配。这将是对PTD的发病率，患病率和相关危险因素的首次研究，其中大量未选择的多种族人口。它将是有史以来在流行病学上研究的最大人群。研究环境的优势包括：（1）它在人口统计学上与北加州的基本人群相似，（2）获得护理的访问是不受限制的，减少了偏见的确定性，（3）可用的控制人群很大，（4）（4）某些与健康相关的风险因素可以通过计算机化记录来识别，以最小化召回偏见。这些研究有可能对肌张力障碍的决定因素提供重大见解。此外，该队列将为未来的研究提供丰富的资源，包括家庭研究，遗传分析和对环境风险因素的进一步研究。