Neuropathological examination suggests impaired brain iron acquisition in restless legs syndrome
Neuropathological examination suggests impaired brain iron acquisition in restless legs syndrome
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DOI：
10.1212/01.wnl.0000078887.16593.12
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发表时间：
2003-08-12
期刊：
影响因子：
9.9
通讯作者：
Earley, CJ
中科院分区：
文献类型：
--
作者：
Connor, JR;Boyer, PJ;Earley, CJ
目的：评估不宁腿综合征（RLS）患者的神经病理学。方法：一个标准的神经病理学评估进行了7个人谁被诊断为RLS的大脑。黑质进行了更详细的铁染色和酪氨酸羟化酶和蛋白质参与铁管理的免疫组织化学检查。5名年龄匹配的无神经病史的个体作为对照。结果：没有发现RLS脑特有的组织病理学异常。RLS脑中主要多巴胺能区域的酪氨酸羟化酶染色正常。RLS黑质的铁染色和H-铁蛋白染色明显减少。虽然在RLS脑中检测到最低限度的H-铁蛋白，但L-铁蛋白染色较强。然而，RLS脑中L-铁蛋白染色的细胞在形态上与对照脑中的细胞不同。转铁蛋白受体染色的神经黑色素细胞减少在RLS的大脑相比，正常的，而转铁蛋白染色在这些细胞中增加。结论：RLS可能不是植根于与传统神经退行性过程相关的病理学，但可能是一种功能性疾病，由RLS中的神经黑色素细胞获得铁受损引起。潜在的机制可能是转铁蛋白受体的调节缺陷。
Objective: To assess neuropathology in individuals with restless legs syndrome (RLS). Methods: A standard neuropathologic evaluation was performed on seven brains from individuals who had been diagnosed with RLS. The substantia nigra was examined in greater detail for iron staining and with immunohistochemistry for tyrosine hydroxylase and proteins involved in iron management. Five age-matched individuals with no neurologic history served as controls. Results: There were no histopathologic abnormalities unique to the RLS brains. Tyrosine hydroxylase staining in the major dopaminergic regions appeared normal in the RLS brains. Iron staining and H-ferritin staining was markedly decreased in the RLS substantia nigra. Although H-ferritin was minimally detected in the RLS brain, L-ferritin staining was strong. However, the cells staining for L-ferritin in RLS brains were morphologically distinct from those in the control brains. Transferrin receptor staining on neuromelanin-containing cells was decreased in the RLS brains compared to normal, whereas transferrin staining in these cells was increased. Conclusions: RLS may not be rooted in pathologies associated with traditional neurodegenerative processes but may be a functional disorder resulting from impaired iron acquisition by the neuromelanin cells in RLS. The underlying mechanism may be a defect in regulation of the transferrin receptors.