8个家族性特发性基底节钙化家系的临床特点及遗传规律研究  

Hereditary Pattern and Clinical Characteristics of Familial Idiopathic Basal Ganglia Calcification from the analysis of 8 Families

作　　者：黄远桃[1] 李梅芳[2] 王清勇[1] 张伟[3] 李萍[1] 向光红[1] 周高雅[1] 杨敏慧[1] 

机构地区：[1]湖南省脑科医院神经内科,湖南长沙410007 [2]湖南省脑科医院头颈外科,湖南长沙410007 [3]湖南省脑科医院放射科,湖南长沙410007

出　　处：《医学临床研究》2016年第1期28-32,共5页Journal of Clinical Research

基　　金：湖南省卫生计生委资助项目（B2015-106）

摘　　要：【目的】探讨8个家族性特发性基底节钙化（FIBGC）家系的临床特点及遗传规律。【方法】收集8个FIBGC家系，根据临床表现分为运动受损组和精神症状组，绘制家系图，分析先证者及家系其他患者的发病年龄、临床表现、基底节区钙化的体积，总结遗传规律。【结果】8个家系均呈常染色体显性遗传，先证者的性别比：男／女-4／4；患者的性别比：男／女-18／17，两组先证者人数构成比：运动受损／精神症状-4／4，运动受损组与精神症状组性别比（男／女）无显著性差异[（3／1）vs（1／3），P〉0．05]。两组先证者的发病年龄[（43．00±3．16）岁vs（29．50±6．95）岁]和基底节区钙化的体积[（1.526±0．679）cm3 vs （0．233±0．114）cm3]比较差异具有统计学意义（P〈0．05）。临床特点：患者均表现为一个系统损害的症状，运动系统受损或者精神症状。以运动受损的4个家系其他成员发病的症状也以运动受损为特点，精神症状为主的4个家系仅5人有精神症状，其他成员均没有临床症状。【结论]FIBGC临床表现具有明显的异质性，以运动受损的患者其病情严重程度与基底节区钙化病灶的大小相关，且发病年龄较晚，家系成员临床症状具有遗传性；以精神症状为主的患者其基底节区钙化病灶小，发病年龄早，家系成员临床症状遗传性不明显。[Objective]To better understand the hereditary pattern and clinical characteristics of Familial Idiopathic Basal Ganglia Calcification （FIBGC） with respect to gender, onset age, and the volume of basal ganglia calcification （VBGC）. [Method]8 FIBGC families were selected and family pedigrees were drawn for each family. According to their pedigrees, they were divided into dyskinesia families and psychogenic families according to the patient＇s specific manifestations. Differences in the patients gender, onset age, and the VBGC between the two groups were statistically analyzed. [Results]The 8 FIBGC families included two with consanguineous marriage manifested autosomal dominant heredity. The summary of clinical features was that the symptoms of patients were characterized by one system＇s damage-either movement system damage or mental system damage. Eight symptomatic patients in the four motor impaired families had dyscinesia, and only five patients in the four mental disorder families suffered from mental disorders, all other members have no clinical symptoms. The proband＇s gender ratios male/female = 4/4, the patient＇s gender ratio., m/f = 18/17, the proband＇s constitute of two groups dyskinesia/psychogeny = 4/4. There was no significant difference found in gender ratios between groups of dyskinesia and psychogenic families （ P 〉0.05）. The differences in proband＇s VBGC （1.526±0.679 VS 0.233±0.114 cm3, t =3.753, P =0.009） and the onset age（44.148±2.112 VS 30.729± 5.516 y, t=28.221, P =0.000）between the groups in dyskinesia families were significant. [Conclusions]The 8 FIBGC families manifested obvious heterogeneity. Patients with dyskinesia suffer larger VBGC were characterized by relatively later onset age and inheritance of the clinical symptoms. However, patients with psychogeny that did not show relation with the VBGC were characterized by earlier onset age and clinical symptoms that were not inheritable between family members.

关 键 词：钙质沉着症/遗传学 基底神经节疾病/遗传学 系谱 

分 类 号：R596.1[医药卫生—内科学]