Fra mental retardering til målrettet behandling ved fragilt X-syndrom

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

Fra mental retardering til målrettet behandling ved fragilt X-syndrom

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

Afdeling for Genetik

1 Citationer (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.

Bidragets oversatte titel	From intellectual disability to new treatment modalities of fragile X syndrome.
Originalsprog	Dansk
Tidsskrift	Ugeskrift for læger [online]
Vol/bind	176
Udgave nummer	9A
ISSN	1603-6824
Status	Udgivet - 24 feb. 2014

Citationsformater

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T1 - Fra mental retardering til målrettet behandling ved fragilt X-syndrom

AU - Jønch, Aia Elise

AU - Timshel, Susanne

AU - Lunding, Jytte

AU - Grønskov, Karen

AU - Brøndum-Nielsen, Karen

PY - 2014/2/24

Y1 - 2014/2/24

N2 - 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.

AB - 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.

M3 - Tidsskriftartikel

C2 - 25350408

SN - 1603-6824

VL - 176

JO - Ugeskrift for læger [online]

JF - Ugeskrift for læger [online]

IS - 9A

ER -

Fra mental retardering til målrettet behandling ved fragilt X-syndrom

Abstract

Fingeraftryk

Citationsformater