ADCY5 相关运动障碍中咖啡因的疗效：一项回顾性研究。
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
机构信息
Inserm U1127, CNRS UMR7225, UM75, Paris Brain Institute, Assistance Publique-Hôpitaux de Paris, DMU Neurosciences, Sorbonne University, Paris, France.
TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, The University of Sydney, Westmead, New South Wales, Australia.
出版信息
Mov Disord. 2022 Jun;37(6):1294-1298. doi: 10.1002/mds.29006. Epub 2022 Apr 5.
BACKGROUND
ADCY5-related dyskinesia is characterized by early-onset movement disorders. There is currently no validated treatment, but anecdotal clinical reports and biological hypotheses suggest efficacy of caffeine.
OBJECTIVE
The aim is to obtain further insight into the efficacy and safety of caffeine in patients with ADCY5-related dyskinesia.
METHODS
A retrospective study was conducted worldwide in 30 patients with a proven ADCY5 mutation who had tried or were taking caffeine for dyskinesia. Disease characteristics and treatment responses were assessed through a questionnaire.
RESULTS
Caffeine was overall well tolerated, even in children, and 87% of patients reported a clear improvement. Caffeine reduced the frequency and duration of paroxysmal movement disorders but also improved baseline movement disorders and some other motor and nonmotor features, with consistent quality-of-life improvement. Three patients reported worsening.
CONCLUSION
Our findings suggest that caffeine should be considered as a first-line therapeutic option in ADCY5-related dyskinesia. © 2022 International Parkinson and Movement Disorder Society.
背景
ADCY5 相关运动障碍的特征是发病早的运动障碍。目前尚无经过验证的治疗方法，但轶事临床报告和生物学假设表明咖啡因有效。
目的
旨在进一步了解咖啡因对 ADCY5 相关运动障碍患者的疗效和安全性。
方法
在全球范围内对 30 名已证实存在 ADCY5 突变且曾尝试或正在服用咖啡因治疗运动障碍的患者进行了回顾性研究。通过问卷评估疾病特征和治疗反应。
结果
咖啡因总体上耐受性良好，即使在儿童中也是如此，87%的患者报告有明显改善。咖啡因减少了阵发性运动障碍的频率和持续时间，但也改善了基线运动障碍和其他一些运动和非运动特征，同时改善了生活质量。有 3 名患者报告病情恶化。
结论
我们的研究结果表明，咖啡因应被视为 ADCY5 相关运动障碍的一线治疗选择。 © 2022 国际帕金森病和运动障碍协会。
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