Abstract
From intellectual disability to new treatment modalities of
fragile X syndrome:
Ugeskr Læger 2014;176:V06130350
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.
| Bidragets oversatte titel | From intellectual disability to new treatment modalities of fragile X syndrome. |
|---|---|
| Originalsprog | Dansk |
| Artikelnummer | V06130350 |
| Tidsskrift | Ugeskrift for Laeger |
| Vol/bind | 176 |
| Udgave nummer | 26 |
| Sider (fra-til) | 2466-2470 |
| Antal sider | 5 |
| ISSN | 0041-5782 |
| Status | Udgivet - 22 dec. 2014 |