RESTLESS LEG SYNDROME

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。不宁腿综合征(RLS)是一种常见的神经系统疾病，约有10%的人口受到影响。它包括腿部的不适感，休息时感觉更差，运动时感觉更好，晚上最严重。它可以是特发性的，也可以是几种常见疾病的继发性疾病。在特发性病例中，高达92%的人报告有RLS症状的一级亲属。它被认为遵循一种显性的继承模式。特发性RLS患者的黑质和壳核中的铁含量异常低。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。我们的目标是分离导致家族性不宁腿综合征的一个或多个基因。

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.