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家族性特发性震颤6家系临床及遗传特点分析
作者: 林晓贞 陈万金 王柠 LIN Xiaozhen CHEN Wanjin WANG Ning
单位:福建医科大学附属第一医院神经内科,福州,350005
关键词: 家族性特发性震颤 临床 遗传学
分类号:
出版年·卷·期(页码):2009·35·第 7 期(0-0)
摘要:
目的 分析家族性特发性震颤(familial essential tremor,FET)的临床特点,探讨该病的分子遗传学进展.方法 回顾性分析6个家族性特发性震颤家系的临床及遗传学特征.结果 6个家系共32例患者,男22例,女10例,发病年龄25~71岁,其中家系A中有2例患者合并甲状腺功能亢进症,家系B与C中各有1例伴听力下降.除F外的5个家系有连续2代以上发病,符合常染色体显性遗传,且有遗传早现现象.家系F只有一代患者,但3名同胞均患病.结论 FET呈现出常染色体显性遗传的特点,存在临床和遗传异质性.迄今已发现FET存在多个遗传位点,但尚未找到确切的致病基因.
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