Browsing Archive: October, 2012

Justice for Rett Syndrome

Posted by Fridrik Fridriksson on Wednesday, October 24, 2012,

By Eduardo Reyes

In my day job as a journalist I've just finished writing a story about a just outcome -the Home Secretary stood up in the House of Commons and announced she was blocking the extradition of the 'Pentagon Hacker' a man who has Aspergers.

For ten years now the people who stood with him - his remarkable mother, his lawyers and many, many more - have done serious and difficult things to support him, to keep him in the UK. They mixed hope and love with concrete and clever things to g...


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Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome

Posted by Fridrik Fridriksson on Wednesday, October 24, 2012,
Rett syndrome is a neurological disorder caused by mutation of the X-linked MECP2 gene. Mice lacking functional Mecp2 display a spectrum of Rett syndrome-like signs, including disturbances in motor function and abnormal patterns of breathing, accompanied by structural defects in central motor areas and the brainstem. Although routinely classified as a neurodevelopmental disorder, many aspects of the mouse phenotype can be effectively reversed by activation of a quiescent Mecp2 gene in adults....
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Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome.

Posted by Fridrik Fridriksson on Wednesday, October 24, 2012,
The functional relevance of brain-derived neurotrophic factor (BDNF) is beginning to be well appreciated not only in mice, but also in humans. Because reduced levels typically correlate with impaired neuronal function, increasing BDNF levels with well-tolerated drugs diffusing into the central nervous system may help in ameliorating functional deficits. With this objective in mind, we used the sphingosine-1 phosphate receptor agonist fingolimod, a drug that crosses the blood-brain barrier. In...
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Stem cell study identifies early issues in Rett syndrome

Posted by Fridrik Fridriksson on Friday, October 19, 2012,

Neural stem cells from people with Rett syndrome show early signs of dysfunction, according to unpublished research presented at the 2012 Society for Neuroscience annual meeting in New Orleans. The results come from a comprehensive analysis of protein expression in neural progenitor cells, which mark the developmental stage between stem cells and neurons.

“What we’re trying to do is see if we can find the earliest molecular changes in patient-derived stem cells,” says senior investigat...


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Ketamine Treatment, reversing Rett Syndrome?

Posted by Fridrik Fridriksson on Wednesday, October 17, 2012,
Monica Coenraads, Executive Director of the Rett Syndrome Research Trust, interviews David Katz, PhD about his Journal of Neuroscience paper published 10/3/2012 and entitled "Brain Activity Mapping in Mecp2 Mutant Mice Reveals Functional Deficits in Forebrain Circuits, Including Key Nodes in the Default Mode Network, that are Reversed with Ketamine Treatment"

http://vimeo.com/51007197



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