Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease
Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease
复制标题
DOI：
10.1007/s00415-006-0369-7
复制
发表时间：
2007-05-01
影响因子：
6
通讯作者：
Berg, Daniela
中科院分区：
文献类型：
--
作者：
Schweitzer, Katherine J.;Bruessel, Theresa;Berg, Daniela
黑质（substantia nigra，SN）的强回声是原发性帕金森病（idiopathic Parkinson's disease，PD）的一个典型征象，在90%以上的患者中普遍存在。为了了解SN高回声性是否也是单基因引起的PD的特征，我们通过经颅超声检查（TCS）研究了具有α-突触核蛋白、LRRK 2、parkin、PINK 1和DJ-1突变的PD患者。在所有这些患者中，SN回声区明显大于健康对照组，但小于特发性PD。由于SN高回声可能与SN铁含量增加有关，因此这些发现表明，与特发性PD相比，铁在单基因引起的发病机制中发挥的作用可能不太重要。
Hyperechogenicity of the substantia nigra (SN) has been found to be a typical sign in idiopathic Parkinson's disease (PD), prevalent in more than 90% of affected individuals. To see whether SN hyperechogenicity is also characteristic for monogenetically caused PD, we investigated PD patients with alpha-synuclein, LRRK2, parkin, PINK1 and DJ-1 mutations by transcranial sonography (TCS). In all these patients the area of SN echogenicity was significantly larger than in healthy controls, but smaller, than in idiopathic PD. As SN hyperechogenicity could be related to an increased iron content of the SN, these findings suggest that iron may play a less significant role in the pathogenesis of monogenetically caused compared to idiopathic PD.