Department of Neurology, Catholic Kwandong University College of Medicine, International St. Mary's Hospital, Incheon, Korea.
Department of Neurology, Ewha Womans University School of Medicine, Ewha Womans University Mokdong Hospital, Seoul, Korea.
J Korean Med Sci. 2018 Apr 11;33(17):e130. doi: 10.3346/jkms.2018.33.e130. eCollection 2018 Apr 23.
Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related problems have not been reported in patients with DRPLA. There was a 65-year-old man and his family with DRPLA. They suffered from seizure, gait disturbance, and cognitive decline. The patients commonly showed dream enacting sleep disorder, insomnia. The results from overnight polysomnography showed rapid eye movement (REM) without atonia in patients with DRPLA. The man died 2 years after diagnosis and was subjected for brain autopsy. We report REM sleep behavior disorders in patients with DRPLA confirmed with polysomnography with pathological description of the patient.
齿状核红核苍白球路易体萎缩症（DRPLA）是一种由抗萎缩蛋白 1 蛋白中编码多聚谷氨酰胺链的胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复扩增引起的神经退行性疾病。与其他 CAG 重复疾病不同，DRPLA 患者没有报告与睡眠相关的问题。本文报道了一例 65 岁男性及其家族的 DRPLA 病例。他们患有癫痫、步态障碍和认知能力下降。患者通常表现出梦动睡眠障碍和失眠。整夜多导睡眠图的结果显示，DRPLA 患者的快速眼动（REM）期间无动性。该患者在诊断后 2 年死亡，并接受了尸检。我们通过多导睡眠图检查并结合患者的病理描述，证实了 DRPLA 患者存在 REM 睡眠行为障碍。
