一个四代家族性帕金森病大家系报告  

A Case Report on A Familial Parkinson’s Disease Pedigree of Four Generations

作　　者：胡馨予[1] 姜立刚[2] 张颖[3] 郭睿[3] 张医芝[3] 刘超[4] 李佳[3] 陈秋惠[3] 胡国华[3] 吴江[1] 

机构地区：[1]吉林大学第一医院神经内科,吉林长春130021 [2]北华大学附属医院神经内科,吉林吉林132000 [3]吉林大学第二医院神经内科,吉林长春130041 [4]吉林大学第二医院神经外科,吉林长春130041

出　　处：《中风与神经疾病杂志》2013年第7期587-590,共4页Journal of Apoplexy and Nervous Diseases

基　　金：国家自然科学基金项目(30470590);吉林省科技厅科学基金项目(200905012)

摘　　要：目的明确该家系所患疾病是否为家族性帕金森病。方法详细调查先证者和家系成员临床资料,绘制该家系遗传图谱,以确定何种遗传学方式。结果调查发现该家系共4代33例,已患病13例,可疑6例,发病年龄为33～53岁,病程3～18年,临床表现为典型PD,左旋多巴治疗有效。结论该家系可确定是一个常染色体显性遗传的PD大家系。Objective To identify whether a family belongs to Parkinson’s disease family.Methods Collect and analyze the epidemic and clinical data of the family members to get the inherit pattern of their familial Parkinson’s disease.Results We investigated 33 members of 4 generation in this family,in which there have been 13 patients and 6 suspected cases.The age of onset ranging from 33 to 53 year-old,the course of disease is from 3 to 18 years,the clinical features were as the same as classic PD,oral levodopa treatment was effective.Conclusion This family,with clear genetic origins,belongs to an autosomal dominant PD pedigree.

关 键 词：帕金森病 遗传因素 家族性 家系 

分 类 号：R742.5[医药卫生—神经病学与精神病学]