Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study.

Abstract

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.

• Authors: Eveline E O Hagebeuk, Marinus Duran, Johannes H T M Koelman, Nicolaas G G M Abeling, Arno Vyth, Bwee-Tien Poll-The
• Journal: Journal of child neurology (J Child Neurol) Vol. 27 Issue 3 Pg. 304-9 (Mar 2012) ISSN: 1708-8283 [Electronic] United States
• PMID: 21868372 (Publication Type: Journal Article, Randomized Controlled Trial)

Chemical References

• MECP2 protein, human
• Methyl-CpG-Binding Protein 2
• Tetrahydrofolates
• Folic Acid
• Leucovorin
• 5-methyltetrahydrofolate

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Cross-Over Studies
• Dietary Supplements
• Double-Blind Method
• Female
• Folic Acid (blood)
• Humans
• Leucovorin (administration & dosage)
• Linear Models
• Longitudinal Studies
• Methyl-CpG-Binding Protein 2 (genetics)
• Mutation (genetics)
• Neurologic Examination
• Rett Syndrome (cerebrospinal fluid, diet therapy, genetics)
• Tetrahydrofolates (blood, cerebrospinal fluid)
• Time Factors
• Treatment Outcome
• Young Adult