Prevalence of FMRI Expansions in Movement Disorders

描述（由申请人提供）：Deborah Ann Hall博士正在申请运动障碍领域的Pentored Patient-Oriented Research（K23）奖。该提案描述了一个研究和培训计划，为发展一个临床研究员在神经病学。首席研究员Hall博士已完成神经病学住院医师培训和运动障碍奖学金。她获得了美国神经病学学会的临床研究奖学金，目前正在攻读博士学位。临床科学。候选人的近期目标是继续研究脆弱的X相关震颤/共济失调综合征，通过直接应用她新获得的流行病学和生物统计学技能在拟议的项目。她的长期目标是研究遗传风险因素，神经流行病学和共济失调的治疗，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（UCDHSC）工作。UCDHSC在支持和发展临床研究人员方面有着广泛的记录。的博士在临床科学计划在ucdhsc促进指导多学科临床研究。候选人将与Tim Byers医学博士（流行病学），Maureen Leehey医学博士（神经病学），加里Zerbe博士（生物统计学）和Paul Hagerman医学博士（生物化学）进行研究。Hall博士的研究项目是确定震颤、共济失调和/或帕金森症受试者中FMR 1（脆性X智力低下）基因重复扩增的患病率。Hall博士将通过在她的诊所招募具有三种表型的受试者并进行FMR 1基因的PCR来进行横断面研究。将招募所有合格受试者，并在研究实验室进行基因检测。要测量的主要结果是三组组合和每个表型亚组中重复扩增的患病率。发病年龄、诊断神经系统体征的年龄以及三核苷酸重复序列大小与表型之间的相关性也是待测量的结果。将使用线性和逻辑回归模型，并研究包括人种和种族在内的协变量。相关性：这项研究很重要，因为它可以定义各种异常运动（如震颤）的遗传风险因素。这将改善对患有进行性神经系统疾病的个体的诊断和潜在治疗。这些疾病是一个重要的公共卫生问题，因为它们导致我们老龄化人口的发病率和死亡率。

DESCRIPTION (provided by applicant): Dr. Deborah Ann Hall is applying for a Pentored 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 training 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 tri-nucleotide 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.