Parkinsonism among Gaucher disease carriers
Parkinsonism among Gaucher disease carriers
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DOI：
10.1136/jmg.2004.024455
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发表时间：
2004-12-01
影响因子：
4
通讯作者：
Sidransky, E
中科院分区：
文献类型：
--
作者：
Goker-Alpan, O;Schiffmann, R;Sidransky, E
戈谢病和帕金森病之间的关联已经通过罕见患者中戈谢病和帕金森综合征的并发症以及散发性帕金森病先证者中葡萄糖脑苷脂酶突变的鉴定得到证实。使用不同的和互补的方法，我们描述了10个不相关的戈谢病患者的家庭，其中专性或确认携带者的葡萄糖脑苷脂酶突变发展帕金森症。这些观察结果表明，突变的葡萄糖脑苷脂酶，即使在杂合子，可能是帕金森综合征的发展的一个危险因素。了解改变的葡萄糖脑苷脂酶和帕金森病表现的发展之间的关系将提供对帕金森病的遗传学，发病机制和治疗的见解。
An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.