Researchers studying learning disabilities associated with neurofibromatosis type 1, or NF1, have traced the problem to excessive activity of a crucial signaling molecule and have successfully reversed the disabilities in mice by giving them an experimental drug. The findings provide hope that these learning problems may one day be treatable in humans.
This study provides the first clear picture of what causes learning impairments in NF1, says study author Alcino J. Silva, Ph.D., of the University of California, Los Angeles (UCLA).
NF1 is a genetic disorder that affects about one in every 4000 people. Patients with the disorder have an array of symptoms, including benign tumors called neurofibromas and light brown spots on the skin called caf?-au-lait spots. About half of the affected individuals have cognitive disabilities, which typically include problems with spatial learning (which affects organization and other abilities) and reading.