TY - T1的血浆铜蓝蛋白基因变异和黑质hyperechogenicity帕金森病JF -神经学乔-神经病学SP - 1912 LP - 1917做wnl.0000144276.29988 10.1212/01.。首页C3六世- 63 - 10 AU - h . Hochstrasser AU - p·鲍尔AU -美国沃尔特AU -美国本克先生AU - j .明镜盟- i Csoti AU - b . Zeiler AU - a . Bornemann盟- j . Pahnke AU - g·贝克尔盟- o·里斯AU - d . Berg Y1 - 2004/11/23 UR - //www.ez-admanager.com/content/63/10/1912.abstrac首页t N2 -背景:经颅超声可用于检测黑质铁含量的增加(SN)在帕金森病(PD)患者和对照组。目前尚不清楚铁积累在PD主要或次要的现象。然而,在铁代谢基因序列变异与基底神经节紊乱。其中一个是血浆铜蓝蛋白(Cp),这是极其参与铁运输穿过细胞膜。方法:一百七十六例PD大脑根据英国银行标准和180年种族匹配的对照组,以前检查的SN铁经颅超声信号的变化,对Cp基因的突变检测使用变性高效液相色谱法和后续的测序验证的明确信号。PD中脑的免疫组织化学检查执行Cp在路易小体的存在。结果:5小说错义变化检测。其中一个(I63T)被发现在一个PD病人。已知的变异(D554E)明显与PD和超声波增加锡铁水平的标志。 Moreover, a third sequence variation (R793H) was found to segregate with the ultrasound marker for increased iron levels in patients and control subjects. Immunohistochemistry demonstrated that Cp co-localizes with Lewy bodies in PD. Conclusions: Detection of sequence variations in a single Parkinson disease (PD) patient or associated with the ultrasound marker for increased substantia nigra iron levels and the presence of ceruloplasmin (Cp) immunoreactivity in Lewy bodies underline a suspected role for Cp in the pathogenesis of PD. Further functional analyses are warranted to investigate whether these variations are causally linked to the complex pathogenesis of PD in a subset of cases. ER -