Natural history study of x-linked Dystonia Parkinsonism

项目摘要 X连锁肌张力障碍帕金森综合征(XDP)是一种影响男性的神经退行性疾病 他们的母亲来自菲律宾的班乃岛。由于相对来说 XDP患者居住的与世隔绝的地区，以及这种疾病本身的稀有程度有限 关于自然历史的数据目前是可用的。此应用程序的目标是 巩固已经建立的自然历史研究和收藏合作 DNA和其他生物体液。自然历史研究对于理解 一种罕见疾病的病因、各种表现和进展。生物制品是 在分子和细胞水平上理解潜在的病理是至关重要的。在……里面 此外，菲律宾的研究人员将接受临床研究方面的培训 美国的方法论。培训将提高他们的指挥能力 在菲律宾对XDP进行独立研究。

Project Summary X-linked dystonia Parkinsonism (XDP) is a neurodegenerative disease that affects men whose mothers originate from the island of Panay, Philippines. Due to the relatively isolated region in which those with XDP live, and the rarity of the disease itself, limited data regarding the natural history is currently available. The goal of this application is to solidify an already established collaboration for a natural history study and the collection of DNA and other biological fluids. Natural history studies are important for understanding the etiology, range of manifestations and progression of a rare disease. Biospecimens are crucial to understand the underlying pathology at both the molecular and cellular level. In addition, investigators in the Philippines will undergo training in clinical research methodology in the United States. The training will improve their ability to conduct independent research on XDP in the Philippines.