The Neuropathology of McLeod Syndrome
The Neuropathology of McLeod Syndrome
复制标题
麦克劳德综合征的神经病理学
DOI：
10.1007/978-3-540-71693-8_16
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发表时间：
2008
期刊：
影响因子：
--
通讯作者：
H. Jung
中科院分区：
文献类型：
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作者：
F. Geser;M. Tolnay;H. Jung
McLeod综合征（MLS）属于神经棘红细胞增多症（NA）综合征的异质性组，其特征在于累及血液系统和神经系统。MLS的中枢神经系统症状类似于亨廷顿病（HD）或舞蹈棘红细胞增多症（ChAc），包括舞蹈病运动障碍、精神异常、认知下降和全身性癫痫发作。在MLS中，尾状核、壳核和苍白球中存在相当非特异性的病理变化，其特征在于神经元丢失和星形胶质细胞增生。ChAc可能显示黑质和丘脑的额外参与，HD具有更广泛的病理学特征和存在独特的核内包涵体。皮质病理主要发生在HD中，在ChAc中不太明显，并且最可能仅在MLS中以较小程度存在。然而，MLS中皮质、皮质下和基底节病理的性质仍有待于在更大的尸检系列中更详细地研究。
McLeod syndrome (MLS) belongs to the heterogeneous group of neuroacanthocytosis (NA) syndromes that are characterized by an involvement of the hematological and nervous systems. Central nervous system symptoms of MLS resemble Huntington’s disease (HD) or choreoacanthocytosis (ChAc) and include a choreatic movement disorder, psychiatric abnormalities, cognitive decline, and generalized seizures. In MLS, rather non-specific pathological changes are present in the caudate nucleus, putamen and pallidum, which are characterized by neuronal loss and astrogliosis. ChAc may show an additional involvement of the substantia nigra and thalamus, and HD features more widespread pathology and the presence of distinctive intranuclear inclusions. Cortical pathology predominantly occurs in HD, is less pronounced in ChAc, and most likely present to an only minor extent in MLS. However, the nature of cortical, subcortical, and basal ganglia pathology in MLS remains to be investigated in more detail in larger autopsy series.