Prevalence of FMRI Expansions in Movement Disorders

黛博拉·安·霍尔博士正在申请以患者为导向的研究指导奖(K23)，该奖项涉及 运动障碍。本提案描述了一项研究和培训计划，以开发一种 临床医生-神经学研究员。首席研究员霍尔博士已经完成了神经科住院医师培训 一场雨和一场运动失调的联谊。她获得了哈佛大学竞争激烈的临床研究奖学金。 他目前正在攻读临床科学博士学位。候选人的第一时间 目标是通过直接应用HER，继续研究脆性X相关震颤/共济失调综合征 在拟议的项目中获得新的流行病学和生物统计学技能。她的长期目标是 研究共济失调的遗传危险因素、神经流行病学和治疗，包括散发性共济失调。 在获奖期间，霍尔博士将在科罗拉多大学神经病学系工作 (UCDHSC)。UCDHSC在支持和发展临床医生-研究人员方面有着广泛的记录。 UCDHSC的临床科学博士项目促进了有指导的多学科临床研究。 候选人将与医学博士蒂姆·拜尔斯(流行病学)莫琳·利希教授一起进行研究 医学博士(神经学)、加里·泽贝博士(生物统计学)和保罗·哈格曼博士(生物化学)。 霍尔博士的研究计划是确定FMR1(脆性X)重复扩张的流行率 精神发育迟滞)基因在震颤、共济失调和/或帕金森症患者中的作用。霍尔医生会做一个交叉检查- 在她的诊所招募具有这三种表型的受试者并进行聚合酶链式反应的横断面研究 FMR1基因。所有符合条件的受试者都将被招募，基因测试将在一项研究中进行 实验室。要衡量的主要结果是这三个国家重复扩张的流行率 组合成组和每个表型亚群。发病年龄，神经体征的诊断年龄， 三核苷酸重复大小和表型之间的相关性也是有待测量的结果。 将使用线性和Logistic回归模型，并将研究包括种族和民族在内的协变量。 相关性：这项研究很重要，因为它可能定义各种异常的遗传风险因素 运动，如震颤。这将导致改善对个人的诊断和潜在的治疗 患有进行性神经系统疾病。这些疾病是一个重要的公共卫生问题，因为 它们会在我们老龄化的人口中造成发病率和死亡率。

Dr. Deborah Ann Hall is applying for a mentored patient-oriented research (K23) award in the area of movement disorders. This proposal describes a research and training program for the development of a clinician-investigator in neurology. The principal investigator, Dr. Hall, has completed neurology residency raining and a movement disorders fellowship. She received a competitive clinical research fellowship from the American Academy of Neurology and is pursuing a Ph.D. in Clinical Science. The candidate's immediate goals are to continue research in the fragile X-associated tremor/ataxia syndrome, by directly applying her newly acquired epidemiologic and biostatistics skills in the proposed project. Her long term goals are to study the genetic risk factors, neuroepidemiology, and treatment of ataxia, including sporadic ataxia. During the award period, Dr. Hall will be based in the Department of Neurology at the University of Colorado (UCDHSC). UCDHSC has an extensive track record for supporting and developing clinician-investigators. The Ph.D. in Clinical Sciences program at UCDHSC facilitates mentored multidisciplinary clinical research. The candidate will carry out her research with Professors Tim Byers MD (Epidemiology), Maureen Leehey MD (Neurology), Gary Zerbe PhD (Biostatistics), and Paul Hagerman MD PhD (Biological Chemistry). Dr. Hall's research program is to determine the prevalence of repeat expansions in the FMR1 (fragile X mental retardation) gene in subjects with tremor, ataxia, and/or parkinsonism. Dr. Hall will do a cross- sectional study by recruiting subjects in her clinics with the three phenotypes and performing PCR of the FMR1 gene. All subjects eligible will be recruited and the genetic testing will be done in a research laboratory. The primary outcomes to be measured are the prevalence of repeat expansions in the three groups combined and each phenotypic subgroup. The age of onset, age of diagnosis of neurological signs, and correlations between trinucleotide repeat size and phenotype are also outcomes to be measured. Linear and logistic regression models will be used and covariates including race and ethnicity will be studied. Relevance: This study is important because it may define genetic risk factors for various abnormal movements, such as tremor. This will result in improved diagnosis and potentially treatment of individuals with progressive neurological diseases. These illnesses represent an important public health problem as they cause morbidity and mortality in our aging population.