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Last Updated: 10/31/2017
 

Article of Interest - Rett Syndrome

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A Wonderful and Hopeful Story: Potential Treatment for Rett
by Kathy Hunter, International Rett Syndrome Association (IRSA), September 18, 2003

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Caroline, now age six, began having seizures when she was just two days old. As she grew older, the seizures persisted, and by the time she was 5, Caroline had lost all of her hand function, with her hands held tightly at her chest. She had ataxia and her breathing was abnormal. She had never walked or talked. While she had some of the symptoms of Rett, doctors at Baylor College of Medicine were reluctant to diagnose it because her MRIs had deteriorated significantly, which is not seen in Rett. Furthermore, Caroline did not have a causative MECP2 mutation. They performed a spinal tap and sent the spinal fluid to Baylor Institute for Metabolic Disease, the only laboratory in the country which tests cerebral spinal fluid for rare metabolic disorders. The test concluded that Caroline had low levels of a form of folate in her spinal fluid, a condition presently known to occur in only a few others. The lower levels of a form of folate in the spinal fluid disrupts many processes and can lead to seizures and the inability to transmit messages through the brain.

http://www.com/healthnews/folic_acid.html provides a good overview of the value of folic acid in a variety of conditions.

Caroline immediately began taking folinic acid, a highly purified prescription drug. Within three days, she was laughing. In another couple of days, she had regained the use of one hand. Within three weeks, she was walking on her own. Four months later, she is babbling.

How does this relate to Rett syndrome and your child?

We all know that children without MECP2 mutations are diagnosed with Rett syndrome based upon their clinical presentation. But we further know that Rett syndrome presents a broad clinical picture, and, in some instances, children may be diagnosed with Rett syndrome because their presentation “fits” within the clinical spectrum of this disorder more than any other. The story of Caroline raises the question of whether at least some of the 20% of patients diagnosed as having Rett syndrome without an observable MECP2 mutation may, in fact be suffering from a deficiency in the active form of folic acid, folinic acid (tetrahydrofolic acid), or some other form of folate. And, based upon the study described in a recent IRSAlert (Reduced folate transport to the CNS in female Rett patients; Neurology. 2003 Aug 26;61(4):506-15), it seems reasonable to question the role of this neurotransmitter in patients with identified MECP2 mutations as well.

The Blue Bird Circle Rett Center at Baylor College of Medicine is starting a multi-phase study investigating spinal fluid abnormalities in girls with Rett syndrome, both with and without MECP2 mutations. The first part of the study has recently received Internal Review Board (IRB) approval and will begin shortly. This first part will analyze the spinal fluid from approximately 50 girls with Rett syndrome to look for abnormalities previously reported in a small sample of girls with Rett syndrome (see above.). The goal of this phase of the study is to determine if the reported abnormalities are common in girls with Rett syndrome or represent a rare condition. If treatable spinal fluid abnormalities are discovered in study patients, appropriate medical therapy will be prescribed.

If consistent spinal fluid abnormalities are discovered in enough girls, the second phase of the clinical study will be pursued. This phase will involve providing medical therapy and monitoring the clinical status of study patients. The protocol for this phase of the study will be submitted shortly to the Baylor College of Medicine IRB for approval.

IRSA will provide a questionnaire on our website for parents who wish to participate in this or other studies that may emerge from this promising research lead. In addition to asking the usual contact questions, the questionnaire will collect parameters such as age of onset of regression, current motor status, mutation, and current seizure status in order to provide researchers at Baylor and elsewhere with important access to a wide variety of subject backgrounds which may be important as different discoveries come to light. Additional information will follow in the next few days (hurricane permitting) and we hope to have the questionnaire available by Monday, September, 22.

Reduced Folate Transport to the CNS in female Rett patients

http://www.rettsyndrome.org/images/Rett-Neurology-article-August-2003.pdf  

 

Visit IRSA online at http://rettsyndrome.org.

   

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