PREVALENCE OF FMR1 EXPANSIONS IN MOVEMENT DISORDERS

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 博士霍尔的研究项目是确定脆性X基因突变在震颤、共济失调和/或帕金森综合征患者中的患病率。 霍尔博士将从她的诊所招募具有三种表型和基因检测的受试者。 要测量的主要结果是三组合并和每个亚组中基因突变的患病率。 发病年龄、神经系统体征诊断年龄以及基因突变的相关性也是需要测量的结果。 这项研究很重要，因为它可以阐明遗传风险因素的病因，并改善对代表重要公共卫生问题的疾病患者的诊断和治疗。

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.