Fabry病是一种早期可进行有效治疗的，X染色体性连锁隐性单基因遗传性疾病。在青中年时期即可出现中枢神经系统损害，主要表现为短暂性脑缺血发作和脑梗死，并且经常发生在Fabry 病被诊断和疾病其他关键症状出现之前。因此在青年卒中病人中识别Fabry病具有重要意义。但关于Fabry病与青年卒中关系的研究在中国人群中尚未见到报道。 本研究组在以前工作中连续收集了2009年1月-2012年06月宣武医院神经内科住院的缺血性青年卒中患者共1000余例的临床资料、血浆和DNA标本，拟通过酶学检测结合基因突变检测手段进行GLA基因突变及Fabry病筛查，探讨Fabry病在中国汉族人群缺血性青年卒中的作用及GLA基因突变特点。本研究不仅可以阐明我国汉族人群缺血性青年卒中部分发病机制，为今后青年卒中病因诊断提供指导依据，并且对发现未诊断的Fabry病患者及其临床前阶段亲属，使之能够得到有效治疗具有重要意义。

Fabry disease is a treatable, X-linked lysosomal storage disorder caused by mutations in the -galactosidase A (GLA). It is frequently associated with lesions in the central nervous system, mainly manifested as transient ischemic attack or cerebral infarction at a young or middle age. Recent literature data indicate that stroke frequently occurs before the diagnosis of Fabry disease has been made and in the absence of other key signs of this disease. Thus it is significant to recognize the Fabry disease in young patients with stroke. However, there have been no Chinese Han population-based studies reported on the role of Fabry disease in young patients with stroke. In the previous work, we consecutively collected the clinical data, plasma and DNA samples in more than 1000 young patients with ischemic stroke who were admitted to the neurology department of XuanWu Hospital from January, 2009 to june, 2012. In order to investigate the prevalence of undiagnosed Fabry disease in young patients with ischemic stroke as well as genetic character of GLA mutation in Chinese Han population, we planned to screen for GLA mutation and Fabry disease in these patients using measurement of -galactosidase A activity and genetic mutatiion analysis of GLA gene in the following work. The study is helpful to expound the possible etiology and supply etiologic diagnosis clues of young patients with ischemic stroke. In addition, because Fabry disease is a treatable condition, the screening of Fabry disease has implications for other family members.