Pathology of Inherited Manganese Transporter Deficiency
Pathology of Inherited Manganese Transporter Deficiency
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DOI：
10.1002/ana.24131
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发表时间：
2014-04-01
影响因子：
11.2
通讯作者：
Gospe, Sidney M., Jr.
中科院分区：
文献类型：
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作者：
Lechpammer, Mirna;Clegg, Michael S.;Gospe, Sidney M., Jr.
我们对一名因 SLC30A10 纯合突变而患有锰转运蛋白缺乏症的患者从 14 岁起一直到他 38 岁时去世进行了跟踪调查，并首次提出了这种疾病的尸检结果。基底节显示神经元丢失、绕丹宁阳性沉积物、星形细胞增多、髓磷脂丢失和海绵组织增生。残留基底神经节神经元中的 SLC30A10 蛋白减少。黑质和其他脑干核团出现色素脱失。基底神经节和肝脏的锰含量分别增加了16倍和9倍。我们的研究为进一步研究锰代谢失调继发的中枢神经系统毒性提供了病理学基础。安·尼罗尔 2014；75:608-612
We followed a patient with manganese transporter deficiency due to homozygous SLC30A10 mutations from age 14 years until his death at age 38 years and present the first postmortem findings of this disorder. The basal ganglia showed neuronal loss, rhodanine-positive deposits, astrocytosis, myelin loss, and spongiosis. SLC30A10 protein was reduced in residual basal ganglia neurons. Depigmentation of the substantia nigra and other brainstem nuclei was present. Manganese content of basal ganglia and liver was increased 16-fold and 9-fold, respectively. Our study provides a pathological foundation for further investigation of central nervous system toxicity secondary to deregulation of manganese metabolism. Ann Neurol 2014;75:608-612