早发与晚发成人型齿状核红核苍白球路易体萎缩症表征的对比分析  

Comparative analysis of early onset and late onset adult dentatorubral-pallidoluysian atrophy

作　　者：张辉[1] 邓锦凤[2] 王伟[3] Zhang Hui;Deng Jinfeng;Wang Wei(Department of General Practice,Beijing Chaoyang Hospital,Capital Medical University.Beijing 100022,China)

机构地区：[1]首都医科大学附属北京朝阳医院全科医学科,北京100022 [2]中山大学附属第五医院神经内科,珠海 [3]首都医科大学宣武医院神经内科

出　　处：《脑与神经疾病杂志》2025年第3期170-175,共6页Journal of Brain and Nervous Diseases

基　　金：国家重点研发计划项目(2022YFC3501404);国家自然科学基金资助项目(82271452)。

摘　　要：目的 比较早发成人型与晚发成人型齿状核红核苍白球路易体萎缩症(DRPLA)的临床表现、影像学的异同,加深对该疾病的认识。方法 收集2022年6月至9月就诊于首都医科大学宣武医院神经内科确诊的1例早发成人型(例1)和1例晚发成人型DRPLA患者(例2)的临床资料和辅助检查,通过全外显子测序和毛细管电泳分析检查三核苷酸(CAG)重复次数,对不同年龄起病的DRPLA患者临床症状和辅助检查进行分析比较。结果 两例患者均有小脑性共济失调、认知障碍、失眠表现,早发型患者症状更加严重且伴有明显不自主运动;早发型患者CAG重复次数为13/59,晚发型患者CAG重复次数为15/54;影像学检查发现两例患者均有小脑萎缩及侧脑室旁白质病变,其中早发型患者还有明显的脊髓萎缩,晚发型患者的脑白质病变更明显。结论 成人起病的DRPLA临床症状主要表现为共济失调和认知功能下降,例1患者CAG重复次数增加和临床症状严重、进展也比较快,例2患者的脑白质病变程度较早发型明显,脑白质病变可能是导致患者出现认知功能下降的主要诱因。Objective To compare the similarities and differences of clinical manifestations and imaging between early onset adult type and late onset adult dentatorubral-pallidoluysian atrophy(DRPLA).Methods The clinical data of 1 patient with early onset adult DRPLA and 1 patient with late onset adult DRPLA were collected,and their clinical manifestations,genetic characteristics and imaging characteristics were compared and analyzed.Results Both patients had cerebellar ataxia,cognitive impairment and insomnia.Early onset patient had more severe symptoms and obvious involuntary movements.CAG repetitions were 13/59 for early-onset patient and 15/54 for late-onset patient;MRI showed brain stem,cerebellar atrophy and paraventricular white matter lesions,especially in late onset patient,which was combined with symmetrical lesions of pons,midbrain and thalamus.Conclusions The clinical symptoms of adult onset DRPLA are mainly characterized by ataxia and cognitive decline.The number of CAG repetitions in early onset DRPLA patients with late onset increases,and the clinical symptoms are serious and progressing rapidly.The degree of white matter lesions in late onset DRPLA patients is obvious early.White matter lesions may be the main inducement of cognitive decline in patients.

关 键 词：齿状核红核苍白球路易体萎缩症 共济失调 白质脑病 

分 类 号：R144.6[医药卫生—公共卫生与预防医学]