EDINBURGH, Scotland, Feb. 9 -- Rett syndrome -- a relatively rare autism spectrum disorder -- may be reversible, if experiments in mice are borne out in humans.
The syndrome, which affects about one in 10,000 girls, is caused by mosaic expression of mutations in the X-linked gene MECP2 and destroys speech, normal movement, and use of the hands, although there is no loss of neurons, according to Adrian Bird, Ph.D., of the University of Edinburgh.
But in a mouse model of the syndrome, symptoms could be reversed completely, even in animals that were severely affected, Dr. Bird and colleagues reported online in the Feb. 9 issue of Science.
"The general perception in the field is that once you have damage in the brain, it's very difficult to go backwards," Dr. Bird said. "What we found is that (Rett syndrome is) reversible."