Prevalence of FMRI Expansions in Movement Disorders

FMRI 扩展在运动障碍中的患病率

• 批准号: 7413272
• 负责人: DEBORAH A HALL
• 金额: $ 17.33万
• 依托单位: UNIVERSITY OF COLORADO DENVER
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-08-08 至 2011-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7413272
• 关键词: Academy; Age; Age of Onset; Alleles; American; Area; Ataxia; Award; Biochemistry; Biometry; CGG repeat; CGG repeat expansion; Cerebellar Ataxia; Clinic; Clinical Research; Clinical Sciences; Colorado; Cross-Sectional Studies; Data; Development; Diagnosis; Diagnostic; Disease; Doctor of Philosophy; Dyskinetic syndrome; Elderly; Epidemiologic Studies; Epidemiology; Ethnic Origin; Etiology; FMR1; FMR1 Gene; FMR1 Premutation; FMR1 repeat expansion; FXTAS; Fellowship; Fragile X Syndrome; Frequencies; Gait abnormality; General Population; Genes; Genetic screening method; Genotype; Goals; Gray unit of radiation dose; Impaired cognition; Individual; Inherited; Intention Tremor; Laboratory Research; Length; Logistic Regressions; Measures; Mental Retardation; Mentored Clinical Oncology Award; Mentored Clinical Scientist Award; Mentored Patient-Oriented Research Career Development Award; Mentors; Modeling; Morbidity - disease rate; Movement Disorders; Neurologic; Neurology; Outcome; Parkinsonian Disorders; Patients; Penetrance; Phenotype; Polymerase Chain Reaction; Population; Population Control; Prevalence; Principal Investigator; Program Development; Public Health; Race; Rain; Range; Recording of previous events; Recruitment Activity; Research; Research Personnel; Research Training; Residencies; Source; Standards of Weights and Measures; Subgroup; Training Programs; Tremor; Trinucleotide Repeats; Universities; Woman; Work; age related; aging population; base; disability; genetic risk factor; improved; male; men; mortality; multidisciplinary; nervous system disorder; novel; patient oriented research; professor; programs; size; skills

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.

黛博拉·安·霍尔博士正在申请一项指导性的以病人为导向的研究（K23）奖，该奖项在以下领域： 运动障碍本提案描述了一项研究和培训方案， 神经病学临床研究员。首席研究员霍尔博士已完成神经病学住院医师培训 下雨和运动障碍奖学金。她获得了竞争性的临床研究奖学金， 美国神经病学学会，正在攻读博士学位。临床科学。候选人的直接 我们的目标是继续研究脆性X相关震颤/共济失调综合征，通过直接应用她的 在拟议项目中新获得的流行病学和生物统计学技能。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教授一起开展研究 医学博士（神经病学）、加里泽贝博士（生物统计学）和保罗哈格曼医学博士（生物化学）。 博士Hall的研究计划是确定FMR 1（脆性X染色体）中重复扩增的普遍性。 精神发育迟滞）基因。霍尔医生会做交叉检查 通过在她的诊所招募具有三种表型的受试者并进行PCR， FMR 1基因。将招募所有符合条件的受试者，并在研究中进行基因检测 实验室要衡量的主要结果是三个重复扩张的患病率， 组组合和每个表型亚组。发病年龄、诊断神经系统体征的年龄， 三核苷酸重复序列大小和表型之间的相关性也是要测量的结果。 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的遗传风险因素。 运动，如震颤。这将导致改善诊断和潜在的个人治疗 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， 这些疾病会令本港人口老化，引致发病和死亡。