Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.
Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum, University of Bologna and IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Parkinsonism Relat Disord. 2018 Sep;54:103-106. doi: 10.1016/j.parkreldis.2018.04.011. Epub 2018 Apr 10.
To characterise the distinctive eye movement disorder and the sleep-related dyskinesia in Adenylate cyclase 5 (ADCY5) related disease.
Formal eye movement examination and video-polysomnography in a cohort of patients with ADCY5 mutations.
All three patients had an eye movement disorder characterised by oculomotor apraxia with gaze limitation most prominently in the vertical plane. All patients had disrupted sleep architecture with reduced sleep efficiency due to frequent and prolonged arousals and awakenings in the context of dyskinesia, which could arise from any sleep stage. The nocturnal movements could last up to 30 min and be more severe than those seen during day-time.
Nocturnal exacerbations of dyskinesia ("ballistic bouts") seem to be a characteristic feature of the disease, affect the quality of life of patients and therefore require awareness and symptomatic treatment approaches. Apraxia of eye movements, with predominant difficulties in the vertical plane, was a common finding in our patients with ADCY5 mutations. These features may prompt the diagnosis and help to distinguish ADCY5-related disease from other childhood-onset hyperkinetic movement disorders.
描述腺苷酸环化酶 5（ADCY5）相关疾病中独特的眼球运动障碍和与睡眠相关的运动障碍。
对一组 ADCY5 突变患者进行正式的眼球运动检查和视频多导睡眠图检查。
所有 3 名患者均存在眼球运动障碍，表现为眼球运动失用，以垂直平面的凝视受限最为明显。所有患者的睡眠结构均受到破坏，睡眠效率降低，原因是运动障碍导致频繁且长时间的觉醒和唤醒，而运动障碍可发生在任何睡眠阶段。夜间运动可持续长达 30 分钟，且比日间更为严重。
运动障碍的夜间恶化（“爆发性发作”）似乎是该疾病的一个特征性表现，影响患者的生活质量，因此需要引起重视并采取对症治疗方法。眼球运动失用，以垂直平面的困难为主，是我们的 ADCY5 突变患者的常见发现。这些特征可能提示诊断，并有助于将 ADCY5 相关疾病与其他儿童期起病的多动性运动障碍区分开来。
