title: [From intellectual disability to new treatment modalities of fragile X syndrome].
abstract: In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most common inherited form of intellectual disability. Current knowledge about the specific gene, the encoded protein and the pathophysiological mechanisms involved has made it possible to develop pharmacological treatment trials. Fragile X syndrome therefore is on its way as model disorder for targeted treatments in genetic medicine, and this article reviews clinical and therapeutic aspects of the syndrome.
authors.affiliation: Center for fragilt X, Klinikken Kennedy Centret, Juliane Marie Centret, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup. aia.elise.joench@regionh.dk.
authors.forename: Aia Elise
authors.initials: AE
authors.lastname: Jønch
authors.forename: Susanne
authors.initials: S
authors.lastname: Timshel
authors.forename: Jytte Merete
authors.initials: JM
authors.lastname: Carlsen Lunding
authors.forename: Karen
authors.initials: K
authors.lastname: Grønskov
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
mesh_terms: D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D010375:Pedigree; D018094:Receptors, Metabotropic Glutamate / Q000037:antagonists & inhibitors / Q000502:physiology
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D018094:Receptors, Metabotropic Glutamate