酪氨酸羟化酶基因新型突变所致多巴反应性肌张力障碍1例  

A case of dopa-responsive dystonia due to a novel mutation in the TH gene

作　　者：储建敏 吴蕾 江璐璐[1] 王永利 陈蔚欣 陈玲[1] CHU Jianmin;WU Lei;JIANG Lulu;WANG Yongli;CHEN Weixin;CHEN Ling(Department of Neurology,The First Affiliated Hospital,Sun Yat-sen University,Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases,National Key Clinical Department and Key Discipline of Neurology,Guangzhou 510080,China)

机构地区：[1]中山大学附属第一医院神经科,广东省重大神经疾病诊治研究重点实验室,国家临床重点专科和国家重点学科,广州510080

出　　处：《中国神经精神疾病杂志》2023年第7期422-425,共4页Chinese Journal of Nervous and Mental Diseases

基　　金：国家自然科学基金(编号:82271267);广东省重点领域研发计划(编号:2018B030337001)。

摘　　要：多巴反应性肌张力障碍临床罕见,发病率低。本文报告1例酪氨酸羟化酶(tyrosine hydroxylase,TH)基因新型突变致多巴反应性肌张力障碍患者的临床资料,为临床诊治提供参考。患者为29岁女性,肢体震颤伴手足姿势异常19年,儿童期急性起病,慢性加重,主要表现为四肢震颤,行走时足尖着地及双手肌肉痉挛,症状存在昼夜波动性特点。查体可见双上肢轻微姿势性及静止性震颤。基因检测提示患者TH基因EXON9 C.943G>A错义突变(遗传自父亲)及TH基因EXON8 C.851A>G错义突变(遗传自母亲)的杂合突变,C.851A>G位点既往未见报告。予小剂量左旋多巴治疗,患者症状明显改善。分析该病例特点及文献回顾表明,多巴反应性肌张力障碍患者诊断主要依赖于基因检测,且不同的临床表型对左旋多巴反应不同。Dopa-responsive dystonia is clinically rare and has a low incidence.In this paper,we report a patient with dopa-responsive dystonia caused by a novel mutation in the TH gene of tyrosine hydroxylase(TH).The patient was a 29-year-old female with limb tremors and abnormal hand and foot postures for 19 years.She has an acute onset in childhood and chronic exacerbation.The main manifestations were tremor of the extremities,toe landing during walking and muscle spasm of both hands,with diurnal fluctuations.Physical examination revealed mild postural and resting tremor of both upper extremities.Genetic testing suggested a heterozygous mutation in the TH gene EXON9 C.943G>A missense mutation(inherited from the father)and TH gene EXON8 C.851A>G missense mutation(inherited from the mother),and the C.851A>G locus had not been reported previously.The patient was treated with low-dose levodopa and her symptoms improved significantly.Analysis of the characteristics of this case and review of the literature demonstrated that the diagnosis of dopa-responsive dystonia mainly relies on genetic testing and that different clinical phenotypes respond differently to levodopa,thus providing a reference for clinical diagnosis and treatment.

关 键 词：多巴反应性肌张力障碍 酪氨酸羟化酶 基因检测 基因突变 新型突变 杂合突变 隐性遗传 

分 类 号：R746[医药卫生—神经病学与精神病学]