α-突触核蛋白基因突变在英国散发性帕金森病患者中的作用。
The role of the alpha-synuclein gene mutation in patients with sporadic Parkinson's disease in the United Kingdom.
作者信息
Warner T T, Schapira A H
机构信息
University Department of Clinical Neurosciences, Royal Free Hospital School of Medicine, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1998 Sep;65(3):378-9. doi: 10.1136/jnnp.65.3.378.
Parkinson's disease is a common neurodegenerative disorder of unknown aetiology. A pathogenic point mutation within the a-synuclein gene has recently been identified in one Italian-American kindred and three families of Greek origin with parkinsonism. DNA from 70 patients with Parkinson's disease was screened for this G209A mutation. No samples were positive for the mutation, suggesting that it is not relevant for most patients with sporadic idiopathic Parkinson's disease.
帕金森病是一种病因不明的常见神经退行性疾病。最近在一个意大利裔美国家族以及三个希腊裔帕金森病家族中发现了α-突触核蛋白基因内的一个致病点突变。对70例帕金森病患者的DNA进行了该G209A突变的筛查。没有样本检测出该突变呈阳性，这表明它与大多数散发性特发性帕金森病患者无关。
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