戈谢病与帕金森病研究进展

Progress in Gaucher Disease and Parkinson's Disease

帕金森病是一种常见的老年神经系统变性疾病,最新的研究发现,帕金森病与少见的遗传病戈谢病有关。戈谢病患者帕金森病的临床特征,多数发病年龄早,无明显的静止性震颤,对左旋多巴的反应差,也有典型的左旋多巴有反应的帕金森病。葡萄糖脑苷脂酶基因突变,即使是杂合子也有发展为帕金森病的危险,而且帕金森病患者葡萄糖脑苷脂酶基因突变比普通人群高。在戈谢病合并帕金森病患者病理研究中发现共核蛋白阳性的路易体和包涵体。

Parkinson disease is a co,non neurodegenerative disease in eider. The newest finding showed that this disease is related to gancher, which is a rare genetic disorder. The clinical manifestation of parkinsonism in patients with Gaucher disease is characterized by early-onset, no tremor and poor response to levodopa therapy, but some present signs of typical Parkinson disease and a favorable response to levodopa therapy. Gaucher also has the type of parkinson＇s disease reacting to levodopa. Glucocerebi＇osidase gene mutations,even in heterozygotes, may be a risk factor for development of parkinsonism, and the mutations in patientd with parkinsonism are more often than expected in general population. Synuclein-positive Lewy bodies and inclusions has been found in pathological study of patients with gaucher and parkinson＇s disease.