鞘内注射镁治疗由于 GRIN1 突变导致的对镁离子不敏感的 NMDA 受体活性。
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
机构信息
Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, 85016, USA.
Departments of Child Health, Neurology, Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ, USA.
出版信息
Orphanet J Rare Dis. 2023 Aug 3;18(1):225. doi: 10.1186/s13023-023-02756-9.
BACKGROUND
Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopathy, and cerebral palsy phenotypes. Both seizures and movement disorders can be highly treatment-refractory.
RESULTS
We describe a targeted ABA n-of-1 treatment trial with intrathecal MgSO, rationally designed based on the electrophysiologic properties of this gain of function mutation in the GRIN1 NMDA subunit.
CONCLUSION
Although the invasive nature of the trial necessitated a short-term, non-randomized, unblinded intervention, quantitative longitudinal neurophysiologic monitoring indicated benefit, providing class II evidence in support of intrathecal MgSO for select forms of GRIN disorders.
背景
已知 NMDA 受体突变会破坏谷氨酸能信号传导，而这对早期神经发育至关重要，通常会导致严重的全面发育迟缓/智力残疾、癫痫性脑病和脑瘫表型。癫痫发作和运动障碍都可能高度难治。
结果
我们描述了一项针对 NMDA 受体 GRIN1 亚单位功能获得性突变的基于电生理特性的鞘内硫酸镁靶向 ABA 单病例治疗试验。
结论
尽管试验的侵袭性需要短期、非随机、非盲干预，但定量纵向神经生理监测表明有效，为鞘内硫酸镁治疗特定形式的 GRIN 障碍提供了 II 级证据支持。
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