Polymeropoulos M H
Novartis Pharmaceuticals Corporation, Pharmacogenetics Department, 9 West Watkins, Gaithersburg, MD 20878, USA.
Ann N Y Acad Sci. 2000;920:28-32. doi: 10.1111/j.1749-6632.2000.tb06901.x.
Several genetic factors have been recently recognized as related to the etiology of Parkinson's disease. Mutations in the genes coding for alpha-synuclein and ubiquitin carboxy-terminal hydrolase have been identified in families with autosomal dominant Parkinson's disease. Mutations in the Parkin gene are responsible for autosomal recessive parkinsonism. These first pieces of the molecular puzzle of Parkinson's disease offer novel insights into the pathophysiology of the illness.
最近，几种遗传因素已被确认为与帕金森病的病因有关。在常染色体显性帕金森病家族中，已发现编码α-突触核蛋白和泛素羧基末端水解酶的基因突变。帕金基因的突变是常染色体隐性帕金森症的病因。帕金森病分子谜题的这些初步线索为该疾病的病理生理学提供了新的见解。
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