Fragile X syndrome: causes, diagnosis, mechanisms, and theraupetics.

Giovanni Neri, Claudia Bagni, Flora Tassone, Randy Hagerman

Risultato della ricerca: Contributo in rivistaArticolo in rivista

184 Citazioni (Scopus)

Abstract

Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet expansion that inhibits expression of the FMR1 gene; the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology. While there is no definitive cure for FXS, the understanding of FMRP function has paved the way for rational treatment designs that could potentially reverse many of the neurobiological changes observed in FXS. Additionally, behavioral, pharmacological, and cognitive interventions can raise the quality of life for both patients and their families.
Lingua originaleEnglish
pagine (da-a)4314-4322
Numero di pagine9
RivistaTHE JOURNAL OF CLINICAL INVESTIGATION
Volume122
Stato di pubblicazionePubblicato - 2012

Keywords

  • X Fragile

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