| Titre : |
Fragile X Syndrome and Autism Spectrum Disorders |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
W. Ted BROWN, Auteur ; Ira L. COHEN, Auteur |
| Année de publication : |
2013 |
| Importance : |
p.409-419 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Fragile X syndrome (FXS) is the most common monogenic form of intellectual disability, and is strongly associated with autism spectrum disorders (ASD). There is wide variation in the severity of symptoms, which may be due in part to modifier genes, such as MAOA. The most consistently observed behavioral feature is social avoidance, which may be secondary to problems with arousal modulation. This social avoidance distinguishes ASD associated with fragile X from idiopathic ASD. The fragile X gene (FMR1) encodes an RNA binding protein (FMRP) that modulates, primarily by suppression of translation, the expression of approximately 4% of brain genes. The mGluR theory of fragile X postulates that over-activity of glutamate excitatory pathways play a major role in symptomatology. Animal models, particularly mouse and Drosophila knockouts, are providing insights into the underlying pathophysiology and are leading to the development of targeted treatments. Current drug trials in FXS are being carried out and may lead to approved drugs, which may be beneficial for ASD as well. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
Fragile X Syndrome and Autism Spectrum Disorders [Texte imprimé et/ou numérique] / W. Ted BROWN, Auteur ; Ira L. COHEN, Auteur . - 2013 . - p.409-419. Langues : Anglais ( eng)
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Fragile X syndrome (FXS) is the most common monogenic form of intellectual disability, and is strongly associated with autism spectrum disorders (ASD). There is wide variation in the severity of symptoms, which may be due in part to modifier genes, such as MAOA. The most consistently observed behavioral feature is social avoidance, which may be secondary to problems with arousal modulation. This social avoidance distinguishes ASD associated with fragile X from idiopathic ASD. The fragile X gene (FMR1) encodes an RNA binding protein (FMRP) that modulates, primarily by suppression of translation, the expression of approximately 4% of brain genes. The mGluR theory of fragile X postulates that over-activity of glutamate excitatory pathways play a major role in symptomatology. Animal models, particularly mouse and Drosophila knockouts, are providing insights into the underlying pathophysiology and are leading to the development of targeted treatments. Current drug trials in FXS are being carried out and may lead to approved drugs, which may be beneficial for ASD as well. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
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Fragile X Syndrome and Autism Spectrum Disorders