[P3-138] The Efficacy of Ascorbic Acid for Charcot-Marie-Tooth Disease type 1A in Children
[Introduction] Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary peripheral neuropathy, characterized by progressive nerve demyelination and impaired motor function. Although ascorbic acid has been shown to improve motor dysfunction in transgenic mouse model of CMT1A, its effectiveness has not been established in childhood CMT1A patients. [Methodology] To elucidate whether ascorbic acid is effective or not, we evaluated four patients with CMT1A treated by ascorbic acid at least two years, using CMT Neurologic Scale (CMTNS). [Results] All four patients with CMT1A were women and harbored PMP22 duplication. The mean age at onset is 5.3 years olds (range: 4-9 years old), and the mean age at starting to treat with ascorbic acid is 10 years old (range: 5-13 years old). The duration of administration of ascorbic acid is 2 to 7 years. Evaluation of CMTNS revealed that those of three patients clearly improved after treatment, but one patient has been declined. The median change in CMTNS from baseline was -0.5 point (-2 to 2) per year, and compared with natural history reported the previous study that showed the annual change in CMTNS was +0.686 point (Neurology, 2008), CMTNS in all patients was less worsen in our study. [Conclusions] These results indicate that ascorbic acid may be effective for childhood CMT1A, possibly depending on individual condition.