Dy Marisela E, Chang Florence C F, Jesus Sol De, Anselm Irina, Mahant Neil, Zeilman Pamela, Rodan Lance H, Foote Kelly D, Tan Wen-Hann, Eskandar Emad, Sharma Nutan, Okun Michael S, Fung Victor S C, Waugh Jeff L
Department of Neurology, Boston Children's Hospital, Boston, MA, USA Department of Neurology, Massachusetts General Hospital, Boston, MA, USA Harvard Medical School, Boston, MA, USA
Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, Australia Sydney Medical School, University of Sydney, Sydney, Australia.
J Child Neurol. 2016 Jul;31(8):1027-35. doi: 10.1177/0883073816635749. Epub 2016 Apr 6.
ADCY5 mutations have been reported as a cause of early onset hyperkinetic movements associated with delayed motor milestones, hypotonia, and exacerbation during sleep. The movement disorder may be continuous or episodic, and can vary considerably in severity within families and in individuals. The authors report a case series of 3 patients with ADCY5 mutations treated with deep brain stimulation after unsuccessful medication trials. All had extensive imaging, metabolic, and genetic testing prior to confirmation of their ADCY5 mutation. Two of the patients had the c.1252C>T; p.R418W mutation, while the youngest and most severely affected had a de novo c.2080_2088del; p.K694_M696 mutation. All had variable and incomplete, but positive responses to deep brain stimulation. The authors conclude that deep brain stimulation may provide benefit in ADCY5-related movement disorders. Long-term efficacy remains to be confirmed by longitudinal observation. ADCY5 should be considered in the differential diagnosis of early onset hyperkinetic movement disorders, and may respond to deep brain stimulation.
据报道，ADCY5突变是早发性运动亢进的一个病因，与运动发育迟缓、肌张力减退及睡眠期间症状加重有关。运动障碍可能是持续性的或发作性的，在家族成员和个体之间严重程度差异很大。作者报告了一个病例系列，3例ADCY5突变患者在药物试验失败后接受了脑深部刺激治疗。在确认其ADCY5突变之前，所有患者均进行了广泛的影像学、代谢和基因检测。其中2例患者有c.1252C>T；p.R418W突变，而最年轻且受影响最严重的患者有一个新发的c.2080_2088del；p.K694_M696突变。所有患者对脑深部刺激均有不同程度且不完全但为阳性的反应。作者得出结论，脑深部刺激可能对ADCY5相关的运动障碍有益。长期疗效仍有待通过纵向观察来证实。在早发性运动亢进性运动障碍的鉴别诊断中应考虑ADCY5，且其可能对脑深部刺激有反应。
