New drug that enhances glutamate transmission in the brain being evaluated for...( ays Berry-Kravis. Males are typic...)

Males are typically more severely affected than females. Although most males have mental retardation, only one-half of females have intellectual impairment (which tends to be milder in females); the rest have either normal IQ or learning disabilities. Emotional and behavioral problems are common in both sexes. Currently there are no therapeutic treatments for the learning problems associated with the disease, although medications for anxiety and ADHD are used to treat behavioral symptoms. Rush-Presbyterian-St. Luke's Medical Center is the only clinical site for care of fragile X patients in the Chicago area.

Autism is a complex developmental disability that typically appears during the first three years of life. The result of a neurological disorder that affects the functioning of the brain, autism and its associated behaviors have been estimated to occur in as many as 2 to 6 in 1,000 individuals. Autism is four times more prevalent in males than in females.

A variety of scientific evidence suggests that increasing glutamate neuronal transmission may be beneficial in autism and in fragile X syndrome. Imaging studies demonstrate that areas of the brain that are extremely rich in glutamate transmission are less active in autistic patients. Molecular studies suggest that although genes involved in the AMPA-type glutamate receptor are more active in autistic patients, the density of AMPA-type glutamate receptors is decreased. Drugs that reduce glutamatergic transmission induce symptoms similar to those seen in autistic patients. Taken together, these facts suggest that enhancing AMPA receptor activity may be beneficial in autistic patients.

The scientific logic for using an AMPA receptor activator in fragile X syndrome is even more compelling because of recent findings regarding the direct impact of the genetic defect in fragile X on neural cell activity. The genetic defect results in the reduction or absence of
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Contact: John Pontarelli
jpontare@rush.edu
312-942-5949
Rush University Medical Center
28-Aug-2002