Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism
Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism
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DOI：
10.1002/ana.20513
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发表时间：
2005-07-01
影响因子：
11.2
通讯作者：
Kaji, R
中科院分区：
文献类型：
--
作者：
Goto, S;Lee, LV;Kaji, R
肌张力障碍是一种神经系统综合征，其特征是持续的肌肉收缩，产生重复的扭转运动或异常姿势。X连锁隐性肌张力障碍帕金森综合征（XDP; DYT 3; Lubag）是一种成人发病的疾病，表现为严重和进行性肌张力障碍，具有高频率的泛化。为了寻找肌张力障碍的解剖学基础，我们对XDP中基于纹状体区室（即，纹状体和基质区室）的基底神经节的功能解剖进行了尸检分析。在这里，我们提供的解剖病理学证据表明，在XDP新纹状体，基质室是相对备用的一种独特的方式，而纹状体严重枯竭。我们还记录了XDP中纹状体神经元亚类的差异损失。鉴于三个途径的基底神经节模型，我们假设，不成比例的参与新纹状体区室和他们的传出投射可能是XDP患者的肌张力障碍的表现。这项研究是我们所知的第一个显示特定的基底神经节病理学，可以解释人类遗传性退行性运动障碍中肌张力障碍的发生，这表明肌张力障碍可能是由于纹状体和基质通路之间的活性不平衡造成的。
Dystonia is a neurological syndrome characterized by sustained muscle contractions that produce repetitive twisting movements or abnormal postures. X-linked recessive dystonia parkinsonism (XDP; DYT3; Lubag) is an adult-onset disorder that manifests severe and progressive dystonia with a high frequency of generalization. In search for the anatomical basis for dystonia, we performed postmortem analyses of the functional anatomy of the basal ganglia based on the striatal compartments (ie, the striosomes and the matrix compartment) in XDP. Here, we provide anatomopatho-logical evidence that, in the XDP neostriatum, the matrix compartment is relatively spared in a unique fashion, whereas the striosomes are severely depleted. We also document that there is a differential loss of striatal neuron subclasses in XDP. In view of the three-pathway basal ganglia model, we postulate that the disproportionate involvement of neostriatal compartments and their efferent projections may underlie the manifestation of dystonia in patients with XDP. This study is the first to our knowledge to show specific basal ganglia pathology that could explain the genesis of dystonia in human heredodegenerative movement disorders, suggesting that dystonia may result from an imbalance in the activity between the striosomal and matrix-based pathways.