Neurological manifestations of type 1 Gaucher's disease:: is a revision of disease classification needed?
Neurological manifestations of type 1 Gaucher's disease:: is a revision of disease classification needed?
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DOI：
10.1016/s0035-3787(06)75120-7
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发表时间：
2006-11-01
影响因子：
3
通讯作者：
Baumann, N.
中科院分区：
文献类型：
--
作者：
Cherin, P.;Sedel, F.;Baumann, N.
介绍。戈谢病 (GD) 是最常见的遗传性溶酶体贮积症，是由葡萄糖脑苷脂酶活性缺陷引起的。由此产生的葡萄糖脑苷脂在巨噬细胞溶酶体中的积累导致肝脾肿大、贫血、血小板减少和各种骨骼表现。根据戈谢病对中枢神经系统影响的性质，戈谢病分为 3 种类型。 1 型是最常见的变异，通常是非神经病性的。然而，I 型戈谢病中帕金森病的发生似乎比一般人群更常见。此外，某些葡萄糖脑苷脂酶基因突变的杂合子患帕金森病的风险较高。观察结果。我们报告了 9 名戈谢病患者的经验及其与神经系统表现的关系。结论。这些最近的数据可能会讨论戈谢分类以及该疾病的神经系统和非神经系统形式之间连续体的存在。
Introduction. Gaucher's disease (GD), the most prevalent inherited lysosomal storage disorder is caused by deficient glucocerebrosidase activity. The resulting accumulation of glucocerebrosides in lysosomes of macrophages leads to hepatosplenomegaly, anemia, thrombocytopenia, and various bone manifestations. Gaucher's disease is classified into 3 types based on the nature of its effects on the central nervous system. Type 1, the most common variant, is classically nonneuronopathic. However, the occurrence of Parkinsonism seems to be more frequent in type I Gaucher's disease than in the general population. Furthermore, heterozygotes for certain glucocerebrosidase gene mutations have a higher risk to develop Parkinson's disease. Observations. We report our experience about 9 patients with Gaucher's disease and their association with neurological manifestations. Conclusion. These recent data may discuss Gaucher's classification and the existence of a continuum between neurologic and non-neurologic forms of the disease.