家族性特发性震颤6家系临床及遗传特点分析  

Clinical and genetic features of six families of familial essential tremor.

作　　者：林晓贞[1] 陈万金[1] 王柠[1] 

机构地区：[1]福建医科大学附属第一医院神经内科,福州350005

出　　处：《中国神经精神疾病杂志》2009年第7期394-397,共4页Chinese Journal of Nervous and Mental Diseases

基　　金：福建省高校创新团队培育计划资助项目(编号:FMU-RT002)

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。Objective To analysis the clinical and genetic features of familial essential tremor （FET）. Methods We interviewed 6 familial essential tremor pedigrees, and analyzed their clinical and genetic features. Results There were 32 patients in 6 pedigrees, including 22 males and 10 females,and their ages of onset were from 21 to 71. 2 patients in family A were accompanied by with Hyperthyroidism, 1 patient in family B and C respectively were accompanied by with hearing deficit. There were at least ：2 patients in every generation of family A, B, C, D and E, indicating autosomal dominant inheritance. Although the patients only occurred in one generation of family F, there were 3 compatriot patients. Conclusions FET is autosomal dominant inheritance and has clinical and genetic heterogeneity. Although there are several loci found to be related to FET, neither virulence gene nor pathogensis has been found yet.

关 键 词：家族性特发性震颤 临床 遗传学 

分 类 号：R741[医药卫生—神经病学与精神病学]