From intellectual disability to new treatment modalities of fragile X syndrome
Jønch, A.E.; Timshel, S.; Carlsen Lunding, J.M.; Grønskov, K.; Brøndum-Nielsen, K.
Ugeskrift for Laeger 176(9a): V06130350
2014
ISSN/ISBN: 1603-6824 PMID: 25350408 Document Number: 676815
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.