1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-23-96 10.15844/pedneurbriefs-23-12-11 Neuromuscular Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Ascorbic Acid in Charcot-Marie-Tooth Disease http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 12 2009 01 12 2015 23 12 96 96 Copyright: © 2009 The Author(s) 2009 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomized, double-blind, placebo-controlled trial

Ascorbic acid has been shown to reduce demyelination and improve muscle function in a transgenic mouse model of Charcot-Marie-Tooth disease (CMT1A).

 Charcot-Marie-Tooth Disease cAMP-Mediated Stimulation Ascorbic Acid

Ascorbic acid has been shown to reduce demyelination and improve muscle function in a transgenic mouse model of Charcot-Marie-Tooth disease (CMT1A). Aberrant expression of the myelin protein 22 gene, PMP22 is the cause of CMT1A, and large doses of ascorbic acid are shown to inhibit cAMP-mediated stimulation of human PMP22 expression. A 12-month, randomized, double-blind, placebo-controlled study of ascorbic acid in 117 adult patients compared to 62 receiving placebo found no significant difference between groups in neuropathy scores. Doses of ascorbic acid were 1 g and 3 g daily. The occurrence of adverse events did not differ between groups. [1]

COMMENT. Similar negative results were obtained in a placebo-controlled trial of ascorbic acid (30 mg/kg/day) in 81 children with CMT1A (2-16 years of age). [2]

Micallef J Attarian S Dubourg O Gonnaud PM Hogrel JY Stojkovic T Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomized, double-blind, placebo-controlled trial Lancet Neurol 2009 Dec 8 12 1103 1110 10.1016/S1474-4422(09)70260-1 19818690 Burns J Ouvrier RA Yiu EM Joseph PD Kornberg AJ Fahey MC Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial Lancet Neurol 2009 Jun 8 6 537 44 10.1016/S1474-4422(09)70108-5 19427269