PATHOGENESIS AND DIAGNOSIS OF MULTIPLE SYSTEM ATROPHY

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。没有进行系统的研究，试图确定可能有助于MSA发展的环境风险因素，确定遗传学在MSA中的作用，并评估诊断标准的充分性、辅助诊断测试的用处以及评估疾病进展的工具的用处。2000年，成立了一个进一步研究MSA的小组，即北美MSA研究小组。该小组包括在与MSA相关的研究中重要的各个领域的专业知识：临床特征(帕金森症、小脑功能障碍、自主神经功能障碍)、病理学、流行病学和风险因素、遗传学、成像、数据库管理和临床试验。这项研究的目的是更多地了解环境和遗传(遗传)因素，这些因素有助于MSA的发展和疾病的自然历史。我们计划招募一组临床明确的MSA患者，并对他们进行半年一次的检查。对于每个MSA受试者，我们将确定两名年龄/性别匹配的病例对照受试者，他们将接受一次检查。30岁以上的MSA患者和性别匹配的非血液相关病例对照受试者将是受试者。每个招生网站将积极招募妇女和少数族裔科目。到目前为止的研究表明，男性比女性更容易受到MSA的影响。由于美国尚未对MSA的人口统计学进行研究，因此不可能准确预测MSA和对照受试者的种族构成。

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. No systematic study has been done to attempt to identify environmental risk factors that may contribute to the development of MSA, to determine the role of genetics in MSA, and to evaluate the adequacy of diagnostic criteria, the usefulness of ancillary diagnostic tests and the utility of instruments to assess the progression of the disease. In 2000, a group formed to further research on MSA, the North American MSA Study Group. The group includes expertise in various areas important in research related to MSA: Clinical Features (parkinsonism, cerebellar dysfunction, autonomic dysfunction), Pathology, Epidemiology and Risk Factors, Genetics, Imaging, Database Management and Clinical Trials. The purpose of this study is to learn more about the environmental and genetic (hereditary) factors that contribute to the development of MSA and the natural history of the disease. We plan to recruit a cohort of patients with clinically definite MSA and to follow them with semiannual examinations. For each MSA subject we will identify two age/sex matched case control subjects, who will be examined once. MSA patients and gender-matched non-blood related case control subjects over the age of 30 will be the subject population. Each enrolling site will actively recruit women and minority subjects. Studies to date have indicated that men are more commonly affected by MSA than women. Because the demographics of MSA have not been studied in the United States, it is impossible to accurately predict the ethnic composition of the MSA and control subjects.