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残性神经退行性疾病，可导致持续的不自主肌肉收缩，产生扭曲、重复和模式化运动或异常姿势。虽然它是第三种最常见的运动障碍，但对肌张力障碍发生的种族或种族差异或危险因素知之甚少。为了解决这个问题，我们将建立一个肌张力障碍事件队列，从一个大型的多种族（~40%非白人）健康维护组织的约300万人中确定。我们预计将发现至少1000例原发性扭转性肌张力障碍（PTD）病例。这将构成迄今为止流行病学研究中招募的最大PTD患者人群，并将首次为解决有关肌张力障碍流行病学的许多问题提供基础。本申请的第一个目的是估计PTD总体和临床定义亚型（包括全身性、颅、颈、肢体和喉肌张力障碍）的发病率和患病率。将按年龄、性别和人种/种族估计组内的发病率和患病率。这将是第一个在不同种族和民族人群中进行的所有类型PTD的流行病学研究。第二个目的是调查病例和对照组中肌张力障碍的家族聚集性，通过有效的家族史访谈进行测量，并确定这是否因肌张力障碍亚型和种族而异。第三个目的是确定与PTD相关的DYT 1突变的频率，在由种族和临床特征定义的组中。目的4是研究环境暴露的作用，可能会影响肌张力障碍的表达和已知基因（DYT 1）的表达，包括特定的先行健康事件（创伤，感染）或生活方式因素（职业，爱好，吸烟，体育活动）通过比较这些事件的频率肌张力障碍发病前的情况下，大约1000匹配的对照。这将是第一次调查的发病率，患病率，和相关的危险因素，PTD在一个大的跨种族人口。这将是有史以来流行病学研究的最大的PTD人群。研究设置的优势包括：（1）在人口统计学上与北方加州的基础人群相似，（2）获得护理不受限制，减少了偏倚确定，（3）可获得大量对照人群，（4）可通过计算机记录识别某些健康相关风险因素，最大限度地减少回忆偏倚。这些研究有可能为肌张力障碍的决定因素提供重要的见解。此外，该队列将为未来的调查提供丰富的资源，包括家庭研究，遗传分析和环境风险因素的进一步调查。