PATHOGENESIS AND DIAGNOSIS OF MULTIPLE SYSTEM ATROPHY

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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.'