Fra mental retardering til målrettet behandling ved fragilt X-syndrom

Translated title of the contribution: From intellectual disability to new treatment modalities of fragile X syndrome.

Aia Elise Jønch, Susanne Timshel, Jytte Lunding, Karen Grønskov, Karen Brøndum-Nielsen

1 Citation (Scopus)

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.

Translated title of the contributionFrom intellectual disability to new treatment modalities of fragile X syndrome.
Original languageDanish
JournalUgeskrift for læger [online]
Volume176
Issue number9A
ISSN1603-6824
Publication statusPublished - 24 Feb 2014

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