title: Advances in the treatment of fragile X syndrome.
abstract: The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational family involvement is commonly encountered when a proband is identified with a FMR1 mutation. Studies of metabotropic glutamate receptor 5 pathway antagonists in animal models of fragile X syndrome have demonstrated benefits in reducing seizures, improving behavior, and enhancing cognition. Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here.
authors.affiliation: MIND. Institute, University of California Davis, School of Medicine, Sacramento, CA 95817, USA. randi.hagerman@ucdmc.ucdavis.edu
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Berry-Kravis
authors.forename: Walter E
authors.initials: WE
authors.lastname: Kaufmann
authors.forename: Michele Y
authors.initials: MY
authors.lastname: Ono
authors.forename: Nicole
authors.initials: N
authors.lastname: Tartaglia
authors.forename: Ave
authors.initials: A
authors.lastname: Lachiewicz
authors.forename: Rebecca
authors.initials: R
authors.lastname: Kronk
authors.forename: Carol
authors.initials: C
authors.lastname: Delahunty
authors.forename: David
authors.initials: D
authors.lastname: Hessl
authors.forename: Jeannie
authors.initials: J
authors.lastname: Visootsak
authors.forename: Jonathan
authors.initials: J
authors.lastname: Picker
authors.forename: Louise
authors.initials: L
authors.lastname: Gane
authors.forename: Michael
authors.initials: M
authors.lastname: Tranfaglia
mesh_terms: D000818:Animals; D018691:Excitatory Amino Acid Antagonists / Q000627:therapeutic use; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D015316:Genetic Therapy / Q000639:trends; D006801:Humans; D009154:Mutation / Q000235:genetics
chemical_list: D018691:Excitatory Amino Acid Antagonists