PREVALENCE OF FMR1 EXPANSIONS IN MOVEMENT DISORDERS

运动障碍中 FMR1 扩展的患病率

• 批准号: 7604470
• 负责人: DEBORAH A HALL
• 金额: $ 3.94万
• 依托单位: UNIVERSITY OF COLORADO DENVER
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-07-01 至 2008-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7604470
• 关键词: Age; Age of Onset; Ataxia; Clinic; Computer Retrieval of Information on Scientific Projects Database; Diagnosis; Etiology; FMR1; Fragile X Gene; Funding; Gene Mutation; Genes; Grant; Individual; Institution; Measures; Movement Disorders; Neurologic; Outcome; Parkinsonian Disorders; Phenotype; Prevalence; Public Health; Recruitment Activity; Research; Research Personnel; Research Project Grants; Resources; Source; Subgroup; Testing; Tremor; United States National Institutes of Health; genetic risk factor; improved

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Dr. Hall's research project is to determine the prevalence of fragile X gene mutations in subjects with tremor, ataxia, and/or parkinsonism. Dr. Hall will recruit subjects from her clinics with the three phenotypes and gene testing. The primary outcomes to be measured are the prevalence of gene mutations in the three groups combined and each subgroup. The age of onset, age of diagnosis of neurological signs, and correlations the gene mutation are also outcomes to be measured. This study is important because it may elucidate the etiology of genetic risk factors and result in improved diagnosis and treatment of individuals with illnesses that represent an important public health problem.

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