Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Mov Disord. 2021 Dec;36(12):2951-2957. doi: 10.1002/mds.28788. Epub 2021 Sep 13.
Treatment of animal models with ataxia telangiectasia (A-T) with nicotinamide riboside (NR) improved their neurological outcome and survival.
The aim of this study is to investigate the effects of NR in patients with A-T.
In this open-label, proof-of-concept study, 24 patients with A-T were treated with NR during four consecutive months. The effects of NR on ataxia, dysarthria, quality of life, and laboratory parameters were analyzed.
During treatment, ataxia scores improved; mean total Scale for the Assessment and Rating of Ataxia and International Cooperative Ataxia Rating Scale scores decreased to 2.4 and 10.1 points, respectively. After NR withdrawal, ataxia scores worsened. In immunodeficient patients, the mean serum IgG concentration increased substantially until the end of the study period with 0.52 g/L. Untargeted metabolomics analysis revealed increased plasma levels of NR metabolites and purine nucleosides during treatment. Adverse effects did not occur.
Treatment with NR is tolerated well and associated with improvement in ataxia and serum immunoglobulin concentrations in patients with A-T. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
用烟酰胺核糖（NR）治疗共济失调毛细血管扩张症（A-T）动物模型改善了它们的神经预后和生存。
本研究旨在探讨 NR 在 A-T 患者中的作用。
在这项开放标签、概念验证研究中，24 名 A-T 患者在连续四个月内接受 NR 治疗。分析了 NR 对共济失调、构音障碍、生活质量和实验室参数的影响。
治疗期间，共济失调评分改善；总共济失调评定量表和国际合作共济失调评定量表评分分别降至 2.4 分和 10.1 分。NR 停药后，共济失调评分恶化。在免疫缺陷患者中，血清 IgG 浓度在研究期间显著增加，达到 0.52g/L。非靶向代谢组学分析显示，治疗期间血浆 NR 代谢物和嘌呤核苷水平升高。未发生不良反应。
NR 治疗耐受良好，可改善 A-T 患者的共济失调和血清免疫球蛋白浓度。© 2021 作者。运动障碍由 Wiley Periodicals LLC 代表国际帕金森病和运动障碍协会出版。
