期刊
JOURNAL OF NEURAL TRANSMISSION
卷 112, 期 9, 页码 1249-1254出版社
SPRINGER WIEN
DOI: 10.1007/s00702-004-0263-3
关键词
alpha-synuclein; Parkinson's disease; Lewy-body
Background: A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. Method: We searched for alterations of alpha-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. Results: We could not detect any quantitative alterations in the gene dosage of alpha-synuclein. Mutational screening of the entire coding region of alpha-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. Conclusions: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据