FOCAL DYSTONIA: GENOTYPE-PHENOTYPE CORRELATION

该子项目是利用 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。 本研究的目的是探讨与肌张力障碍的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的表型的作用，通过临床检查，脑成像研究和肉毒杆菌毒素注射的反应来测量。 预期入组360例受试者：160例患有局灶性肌张力障碍的受试者和200例健康对照受试者。

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.