齿状核红核苍白球路易体萎缩症患者的临床和影像学特征分析  

Analysis of clinical and imaging features of patients with dentatorubral‐pallidoluysian atrophy

作　　者：王素 丁岩[1] 卫华[1] Wang Su;Ding Yan;Wei Hua(Department of Neurology,Xuanwu Hospital,Capital Medical University,Beijing 100053,China)

机构地区：[1]首都医科大学宣武医院神经内科,北京100053 [2]沧州市中心医院神经内科

出　　处：《北京医学》2024年第5期363-365,共3页Beijing Medical Journal

摘　　要：目的了解齿状核红核苍白球路易体萎缩症(dentatorubral⁃pallidoluysian atrophy,DRPLA)的临床表现和影像学特点。方法选取2021年4月30日首都医科大学宣武医院的DRPLA患者1例,回顾性分析其临床表现、影像学和基因特点,并复习相关文献。结果本例患者女,57岁,20岁以后发病。临床主要表现为共济失调、舞蹈症和痴呆等。影像学表现为小脑、脑干萎缩,脑干、丘脑、脑白质T2高信号。DRPLA相关基因的胞嘧啶-腺嘌呤-鸟嘌呤(cytosine-adenine-guanine,CAG)三核苷酸序列重复数为57次。既往文献报道,DRPLA是一种罕见的常染色体显性遗传性疾病,以共济失调、痴呆、肌阵挛和癫痫为特征。成年型患者基因诊断结果中,CAG基因重复序列≤65次。结论以小脑性共济失调、不自主活动伴认知障碍的患者应考虑DRPLA,可行DRPLA相关基因的CAG重复序列的基因学检测,以明确诊断。Objective To understand the clinical and imaging features of dentatorubral-pallidoluysian atrophy(DRPLA).Methods A patient with DRPLA admitted to Xuanwu Hospital of Capital Medical University on April 30,2021 was selected.The clinical,imaging and genetic features of the patient were analyzed retrospectively,and the related literatures were reviewed.Results The patient was a 57-year-old female who develped the disease after the age of 20.The main clinical manifestations were ataxia,chorea and dementia.Imaging findings showed cerebellar and brainstem atrophy,and high T2 signal in brainstem,thalamus and white matter.The CAG repeats of DRPLA-related genes were 57 times.Previous literatures reported that DRPLA was a rare autosomal dominant hereditary disease,characterized by ataxia,dementia,myoclonus and epilepsy,and in the genetic diagnosis of adult patients,CAG gene repeats were less than 65 times.Conclusions Patients with cerebellar ataxia and involuntary activities accompanied by cognitive impairment should be considered DRPLA,and genetic detection of CAG repeats of DRPLA-related genes is feasible to make a clear diagnosis.

关 键 词：齿状核红核苍白球路易体萎缩症 共济失调 不自主运动 ATN1基因 

分 类 号：R742[医药卫生—神经病学与精神病学]