FOCAL DYSTONIA: GENOTYPE-PHENOTYPE CORRELATION

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 本研究的目的是调查与肌张力障碍发病机制或病理生理学相关的基因中的特定多态性对局灶性肌张力障碍表型的作用，通过临床检查、脑成像研究和肉毒杆菌毒素注射反应来测量。 预计招募 360 名参与者：160 名患有局灶性肌张力障碍的参与者和 200 名健康对照参与者。

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. The purpose of this study is to investigate the role of specific polymorphisms in genes associated with the pathogenesis or pathophysiology of dystonia on the phenotype of focal dystonias, as measured by clinical exam, brain imaging studies and response to botulinum toxin injections. Anticipated enrollment is 360 participants: 160 participants who have focal dystonia and 200 healthy control participants.