【摘要】 目的 探讨齿状核红核苍白球路易体萎缩(DRPLA)患者的临床表现、基因改变及颅脑MRI特点。方法 回顾我院确诊的3例DRPLA患者的临床特征，检索目前我国已报道的DRPLA患者的临床资料，进行总结分析。结果 共纳入35例病例，平均发病年龄(25.5±15.4)岁，ATN1基因编码区12p13.31处胞嘧啶-腺嘌呤-鸟嘌呤(CAG)序列重复次数53～79次，两者呈负相关(r=-0.846,P<0.001)。不同亚型的主要临床表现不同，少年型患者通常有癫痫发作、认知障碍和行走不稳，可伴有不自主运动或精神异常；早发成年型患者通常有行走不稳、不自主运动和认知障碍，约半数患者表现出癫痫发作；晚发成年型均有行走不稳表现，癫痫发作少见。影像学方面，29例DRPLA患者颅脑MRI资料完整，患者以小脑萎缩(93.1%,27/29)和脑干萎缩(69.0%,20/29)最常见，其次为脑皮质萎缩(51.7%,15/29)及脑白质病变(51.7%,15/29)。结论 DRPLA的ATN1基因CAG序列重复次数越多，发病年龄越小。其临床表现具有多样性，对具有常染色体显性遗传家族史的癫痫发作、共济失调、认知障碍或不自主运动，患者应进行颅脑MRI及ATN1基因检测。更多还原

【Abstract】 Objective To analyze the clinical manifestations, gene changes and brain MRI in patients with dentatorubral pallidoluysian atrophy(DRPLA). Methods The clinical characteristics of 3 DRPLA patients treated in our hospital were collected, and the clinical data of DRPLA patients reported in our country were summarized. Results Clinical data from a total of 35 DRPLA patients were collected. The average age of onset was(25.5±15.4) years, and the range of cytosine-adenine-guanine(CAG) repetitions at 12p13.31 of ATN1 gene was 53-79 times. The age of onset was negatively correlated with the number of CAG repetitions(r=-0.846, P<0.001). The main clinical manifestations of different subtypes, including juvenile type, early-onset adult type, and late-onset adult type, were quite different. Juvenile patients usually had seizures, cognitive impairment and walking instability, complicated with involuntary movements or mental disorder; Early-onset adult patients typically had walking instability, involuntary movement and cognitive impairment, with approximately half of the patients exhibiting seizures; Late-onset adult type patients had signs of walking instability, but seizures were rare. Brain MRI of 29 patients showed that cerebellar atrophy(93.1%, 27/29) and brainstem atrophy(69.0%, 20/29) were the most frequently observed abnormalities, followed by cortical atrophy(51.7%, 15/29) and white matter lesions(51.7%, 15/29). Conclusion High number of repeats of CAG sequence of ATN1 gene in DRPLA patients is associated with young age of onset. The clinical manifestations are diverse. For patients with epilepsy, ataxia, cognitive impairment or involuntary movement, along with a positive autosomal dominant family history, both brain MRI and ATN1 gene detection are recommended.更多还原