title: Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.
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.
authors.affiliation: Katholieke Universiteit Leuven, Center for Human Genetics, Leuven, Belgium. claudia.bagni@med.kuleuven.be
authors.forename: Claudia
authors.initials: C
authors.lastname: Bagni
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: Randi
authors.initials: R
authors.lastname: Hagerman
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000235:genetics; D042241:Early Diagnosis; D044127:Epigenesis, Genetic; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D006801:Humans; D058990:Molecular Targeted Therapy; D009435:Synaptic Transmission
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human