RESTLESS LEG SYNDROME

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。不宁腿综合征（RLS）是一种常见的神经系统疾病，影响了大约10%的人口。它包括腿部不舒服的感觉，休息时加重，运动时好转，晚上最严重。它可以是特发性的，也可以继发于几种常见的医疗条件。在特发性病例中，高达92%的报告一级亲属有RLS症状。它被认为遵循显性遗传模式。特发性睡动症患者在大脑的黑质和壳核中发现了异常低铁。RLS涉及多巴胺能通路；症状对多巴胺治疗有反应，使用SPECT和PET成像发现多巴胺摄取和多巴胺能受体异常。我们的目标是分离出家族性不宁腿综合征的基因或基因。

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. Restless legs syndrome (RLS) is a common neurologic disorder, affecting about 10% of the population. It consists of uncomfortable sensations in the legs that are worse at rest, better with movement, and most severe in the evening. It can be idiopathic, or secondary to several common medical conditions. In idiopathic cases, up to 92% report a first-degree relative with RLS symptoms. It is thought to follow a dominant inheritance pattern. Idiopathic RLS patients have been found to have abnormally low iron in the substantia nigra and putamen in the brain. RLS involves the dopaminergic pathways; symptoms respond to dopamine therapy, and abnormalities in dopamine uptake and dopaminergic receptors have been found using SPECT and PET imaging. Our objective is to isolate the gene or genes responsible for the familial restless legs syndrome.