[From intellectual disability to new treatment modalities of fragile X syndrome].
- Resource Type
- Academic Journal
- Authors
- Jønch AE; Center for fragilt X, Klinikken Kennedy Centret, Juliane Marie Centret, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup. aia.elise.joench@regionh.dk.; Timshel S; Carlsen Lunding JM; Grønskov K; Brøndum-Nielsen K
- Source
- Publisher: Den Alm Danske Laegerforening Country of Publication: Denmark NLM ID: 0141730 Publication Model: Print Cited Medium: Internet ISSN: 1603-6824 (Electronic) Linking ISSN: 00415782 NLM ISO Abbreviation: Ugeskr Laeger Subsets: MEDLINE
- Subject
- Language
- Danish
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.