家族性帕金森病的临床和基因研究在突尼斯

文摘

摘要目的:确定产业模式和家族性帕金森病的临床特点(F-PD)在突尼斯。

方法:21指数的基础上选择典型的PD患者和PD的家族病史。索引的21个家庭患者在家访问,和临床评估所有可用的亲戚,总共有133个人,。另外广泛谱系数据检测67例。我们确定病史、年龄、发病年龄、发病迹象,病程,左旋多巴的剂量和持续时间(LD)治疗,和相关的疾病。从每个家庭一个病人入院评估确认回应LD的治疗和治疗统一帕金森病评定量表分数。性别比例、传输模式,祖先辅助情况下,和种族隔离率(SR)由谱系分析。

结果:分析了八十八例(44岁男性和44岁的女性;平均发病年龄,39.8±14.4年)。谱系分析显示10一代人(SG)家庭(即。,all affected members belonging to 1 generation) and 11 multigenerational (MG) families (i.e., affected members spanning >1 generation). Parental consanguinity was more frequent in SG families than in MG families. The SR in SG families was 0.23 ± 0.05, compatible with autosomal recessive (AR) inheritance. Analysis of MG pedigrees showed autosomal dominant (AD) inheritance with reduced penetrance in 9 of 10 families. Age at onset was younger than in sporadic PD. Intrafamilial variability of age at onset, symptom of onset, and clinical course was observed. There was no difference in clinical characteristics between SG and MG families apart from dystonic foot at onset, which was more frequent in SG families.

结论:首先,F-PD临床类似于零星的PD除了年轻的发病年龄。其次,是家庭内部和interfamilial变异的临床特征。第三,在突尼斯F-PD基因异构与至少两个遗传模式:广告和基于“增大化现实”技术。