Advances in the Treatment of Fragile X Syndrome
| Autor: | Rebecca Kronk, Carol Delahunty, Jeannie Visootsak, Louise W. Gane, Nicole Tartaglia, David R Hessl, Elizabeth Berry-Kravis, Michele Y. Ono, Walter E. Kaufmann, Jonathan Picker, Ave M. Lachiewicz, Randi J Hagerman, Michael Tranfaglia |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Proband
medicine.medical_specialty Ataxia business.industry Metabotropic glutamate receptor 5 Genetic counseling Genetic Therapy Bioinformatics medicine.disease FMR1 Article Developmental disorder Fragile X syndrome Fragile X Syndrome Pediatrics Perinatology and Child Health Mutation Medicine Autism Animals Humans medicine.symptom business Psychiatry Excitatory Amino Acid Antagonists |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|