Hagebeuk Eveline E O, Duran Marinus, Koelman Johannes H T M, Abeling Nicolaas G G M, Vyth Arno, Poll-The Bwee-Tien
Academic Medical Center, Department of Pediatric Neurology, Amsterdam, The Netherlands.
J Child Neurol. 2012 Mar;27(3):304-9. doi: 10.1177/0883073811417184. Epub 2011 Aug 24.
Rett syndrome is a neurodevelopmental disorder in girls, related to mutations in MECP2 gene. It has been postulated that low 5-methyltetrahydrofolate (5-MTHF) levels are present in cerebrospinal fluid. Folinic acid demonstrated clinical improvement. However, because studies have produced conflicting results, we performed a randomized, double-blind crossover, long-term, follow-up study on folinic acid. Eight Rett syndrome patients received both folinic acid and placebo, for 1 year each. Measurements included plasma folate, 5-MTHF, and clinical outcome scores like Rett Syndrome Motor Behavioral Assessment, Hand Apraxia Scale, and the parental Overall Well-Being Index. In 2 patients, low 5-MTHF levels were present. Folinic acid supplementation increased cerebrospinal fluid 5-MTHF levels, but with no objective evidence of clinical improvement. The Overall Well-Being Index showed a significant difference in favor of folinic acid, not confirmed objectively. In our double-blind randomized study, folinic acid supplementation resulted in increased 5-MTHF levels, but with no objective signs of clinical improvement.
瑞特综合征是一种女童神经发育障碍疾病，与MECP2基因突变有关。据推测，脑脊液中5-甲基四氢叶酸（5-MTHF）水平较低。亚叶酸已显示出临床改善效果。然而，由于各项研究结果相互矛盾，我们对亚叶酸进行了一项随机、双盲交叉、长期随访研究。8名瑞特综合征患者分别接受亚叶酸和安慰剂治疗，各为期1年。测量指标包括血浆叶酸、5-MTHF，以及诸如瑞特综合征运动行为评估、手部失用症量表和家长总体幸福感指数等临床结局评分。2名患者存在低5-MTHF水平。补充亚叶酸可提高脑脊液中5-MTHF水平，但没有临床改善的客观证据。总体幸福感指数显示出有利于亚叶酸的显著差异，但未得到客观证实。在我们的双盲随机研究中，补充亚叶酸导致5-MTHF水平升高，但没有临床改善的客观迹象。
