少年型及早发成年型齿状核红核苍白球路易体萎缩临床特点  

Study on the characteristics of juvenile and early adult dentatorubral-pallidoluysian atrophy

作　　者：孙丽伟 刘爱华[2] 刘江红[2] SUN Liwei;LIU Aihua;LIU Jianghong(不详;Department of Neurology,Xuanwu Hospital Capital Medical University,Beijing 100050,China)

机构地区：[1]北京市房山区第一医院神经内科,102400 [2]首都医科大学附属宣武医院神经内科,100050

出　　处：《中国神经免疫学和神经病学杂志》2024年第4期288-294,共7页Chinese Journal of Neuroimmunology and Neurology

摘　　要：目的探讨齿状核红核苍白球路易体萎缩(dentatorubral-pallidoluysian atrophy,DRPLA)少年型、早发成年型各1例患者及其家系的临床、影像、脑电图及基因改变特点。方法对1例少年型DRPLA和1例早发成年型DRPLA患者及其各自家系的临床特征、影像、脑电图及基因资料进行分析。结果(1)少年型DRPLA患者家系:先证者女性15岁,病程5年,首发症状为步态不稳,逐渐出现认知障碍、癫痫(全面强直阵挛、肌阵挛)症状,外周血DNA检查发现肌萎缩蛋白1(ATN-1)基因中CAG重复次数为63次。头颅核磁共振成像(magnetic resonance imaging,MRI)可见脑干和小脑萎缩。起病3年后发作期脑电图可见全导慢波、多棘慢波节律性发放,起病5年后发作期脑电图出现重度节律失调。先证者祖父、3个姑祖母均于50多岁出现步态不稳症状。(2)早发成年型DRPLA患者家系:先证者女性,26岁,病程2年,首发症状为癫痫,逐渐出现认知障碍、肌阵挛、共济失调。外周血DNA检查结果显示ATN-1基因CAG重复次数为59次。头颅MRI可见脑干、小脑、海马萎缩。起病1.5年后发作期脑电图示后头部异常放电,起病2.5年后异常放电变频繁。先证者祖母60岁出现行走不稳、记忆力减退症状;姑姑于35岁出现肢体抖动症状,于50多岁出现步态不稳,58岁出现认知下降。先证者父亲51岁、先证者之女均无临床表现,外周血DNA检查ATN-1基因CAG重复次数分别为53、60次,为致病基因携带者。结论DRPLA的临床表现具有异质性,临床特征和发病年龄与CAG重复的次数相关。发现ATN-1基因CAG重复序列异常扩增≥48次可以明确DRPLA疾病诊断,如果有条件,应尽早行基因检测,避免漏诊。Objective To investigate the clinical,imaging and genetic characteristics of dentatorubral-pallidoluysian atrophy in juvenile and early-onset adult families.Methods The clinical,imaging,electroencephalograph(EEG),and genetic data of 1 adolescent and 1 early-onset adult DRPLA patients were analyzed.Results Juvenile type:proband female,15 years old,5-year course of disease,the first symptom was walking instability,gradually appeared cognitive function decline,epilepsy(General tonoclonus,myoclonus).Peripheral blood DNA of the probandexamination showed that CAG repeated 63 times in ATN-1 gene.Brain stem and cerebellum atrophy was observed on magnetic resonance imaging(MRI).Three years after onset,rhythmic distribution of episode EEG slow waves was observed,and severe rhythm disorders occurred five years after the EEG of onset.The grandfather and three great-aunts of the proband all showed symptoms of walking instability in their 50s.Early onset adult type:proband female,26 years old,2-year course of disease,the first symptom was epilepsy,gradually appeared cognitive function decline,myoclonic,and ataxia.The results of peripheral blood DNA examination showed that the CAG allele of ATN-1 gene was repeated 59 times.Brain MRI showed brain stem,cerebellar and hippocampal atrophy.Abnormal head discharge occurred after 1.5 years of onset of episode EEG presentation,and frequent abnormal head discharge occurred after 2.5 years of onset.The proband's grandmother showed symptoms of walking instability and memory loss at the age of 60.The proband's aunt developed limb shaking symptoms at the age of 35,walking instability in her 50s,and cognitive decline at the age of 58.The father and daughter of the proband had no clinical manifestations,and the results of peripheral blood DNA examination showed that the CAG repeats of ATN-1 gene were 53 and 60 times,respectively.They are carriers of the disease-causing gene.Conclusions The clinical manifestations of DRPLA are heterogeneous,and the clinical features and age of onset are relate

关 键 词：齿状核红核苍白球路易体萎缩 临床特点 神经影像学 ATN-1基因 

分 类 号：R741[医药卫生—神经病学与精神病学]