黄远桃张伟邹国英李萍周高雅　　杨敏慧　　向光红周宏灏

8个家族性特发性基底节钙化家系患者的临床研究☆

黄远桃*△※张伟◎邹国英#李萍※周高雅※杨敏慧※向光红※周宏灏*△

目的探讨8个家族性特发性基底节钙化（familial idiopathic basal ganglia calcification，FIBGC）家系患者的临床特点。方法 收集8个FIBGC家系患者的临床资料，分析患者的临床检验结果、头颅CT及MRI改变、发病年龄、临床表现与患者基底节钙化体积（the volume of basal ganglia calcification，VBGC）的关系。结果家系患者和健康成员血清钙、铝、砷、钴、镁、磷、铁、甲状旁腺激素和降钙素的值比较均无显著性差异（P＞0.05）。8个家系包括两个近亲结婚的家系均呈现常染色体显性遗传；运动受损患者的病情严重程度与基底节区钙化的病灶大小相关；精神症状的患者有无症状与VBGC的大小无关；运动受损与精神症状的患者间发表年龄（43.954±2.473 vs.31.319±10.156 y，t=4.438，P=0.001）和VBGC（1.748±0.622 vs.0.392±0.276 cm3，t=2.518，P=0.028）比较有统计学差异。结论 8个FIBGC家系患者呈现常染色体显性遗传的特点，运动受损的患者基底节区钙化的病灶大，发病年龄较晚；精神症状的患者基底节区钙化的病灶小，发病年龄较早。

家族性特发性基底节钙化 Fahr’s病 脑钙化 遗传 临床

【Abstract】Objective To better understand the clinical characteristics of Familial Idiopathic Basal Ganglia Calcifi⁃cation（FIBGC），including at the perspective of hereditary pattern，clinical test results，onset age，clinical heterogeneity and the volume of basal ganglia calcification（VBGC）.Method 8 Eight FIBGC families were collected and draw family pedigrees were draw.Analysis of was conducted on the patient's clinical test results，head CT and MRI changes，onset ag⁃es，relationship of clinical manifestations with VBGC.Results No significant difference was found in serum calcium，alu⁃minum，arsenic，cobalt，magnesium，phosphorus，iron，parathyroid hormone and calcitonin concentration between the fam⁃ily members of patients and healthy controls（P＞0.05）.Family members from 8 FIBGC families including the two with consanguineous marriage manifested autosomal dominant heredity.The severity of，symptomatic s was correlated with VBGCpatients showed the same clinical manifestations in the dyskinesia family.The psychiatric symptoms was not asso⁃ciated with VBGC whereas patients with dyskinesia had a large VBGC.There was a significant difference in onset age be⁃tween patients with psychiatric symptoms and those with dyskinesia.P.atients with dyskinesia suffer larger VBGC，and is characterized by Patients with dyskinesia had relatively later onset age（43.95±2.47 y）whereas those with.psychiatric symptoms hadsymptomatic patients with early onset age（31.32±10.16y）.The comparison of the onset age（43.954±2.473 vs.31.319±10.156 y，t=4.438，P=0.001）and VBGC（1.748±0.622 vs.0.392±0.276 cm3，t=2.518，P=0.028）with symptom⁃atic patients between dyskinesia and psychogenic families was significant.Conclusions Eight FIBGC families manifested autosomal dominant heredity.Patients with dyskinesia suffer have a larger VBGC and are associated with a，and is char⁃acterized by relatively later onset age.In contrast，patients with psychiatric symptomspsychogeny is not related withhave a the small VBGC and showedand their age of onset is young.earlier onset age.

【Key Words】Familial idiopathic basal ganglia calcification Fahr’s diseaseBrain calcification Hereditary pat⁃tern Clinical

家族性特发性基底节钙化（familial idiopathic basal ganglia calcification，FIBGC）又称Fahr’s病，是一种罕见的神经系统遗传疾病，首次发病年龄30岁左右，因为钙等矿物质沉积小脑齿状核和基底节区，导致一系列的神经和精神症状，主要的神经症状表现为：肢体乏力、构音障碍、肢体强直和震颤等；主要的精神症状：幻觉、妄想、焦虑、失眠和认知功能障碍等。在没有普及头颅CT检查前，流行病学调查研究发现FIBGC的发病率＜1/ 1000000［1］，随着CT等医学影像技术的发展和广泛使用，FIBGC的散发病例报道不断增加，家系患者的临床资料未见总结报道，本研究收集8个家系，分析总结如下。……