Advances in the treatment of fragile X syndrome.
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.
Hagerman
Randi J
RJ
MIND. Institute, University of California Davis, School of Medicine, Sacramento, CA 95817, USA. randi.hagerman@ucdmc.ucdavis.edu
Berry-Kravis
Elizabeth
E
Kaufmann
Walter E
WE
Ono
Michele Y
MY
Tartaglia
Nicole
N
Lachiewicz
Ave
A
Kronk
Rebecca
R
Delahunty
Carol
C
Hessl
David
D
Visootsak
Jeannie
J
Picker
Jonathan
J
Gane
Louise
L
Tranfaglia
Michael
M
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
D018691:Excitatory Amino Acid Antagonists