Fra mental retardering til målrettet behandling ved fragilt X-syndrom

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

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 Merete Carlsen 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 contribution	From intellectual disability to new treatment modalities of fragile X syndrome.
Original language	Danish
Article number	V06130350
Journal	Ugeskrift for Laeger
Volume	176
Issue number	26
Pages (from-to)	2466-2470
Number of pages	5
ISSN	0041-5782
Publication status	Published - 22 Dec 2014

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title = "Fra mental retardering til m{\aa}lrettet behandling ved fragilt X-syndrom",

abstract = "From intellectual disability to new treatment modalities of fragile X syndrome: Ugeskr L{\ae}ger 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.",

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language = "Dansk",

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

AU - Jønch, Aia Elise

AU - Timshel, Susanne

AU - Carlsen Lunding, Jytte Merete

AU - Grønskov, Karen

AU - Brøndum-Nielsen, Karen

PY - 2014/12/22

Y1 - 2014/12/22

N2 - 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.

AB - 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.

M3 - Tidsskriftartikel

C2 - 25350408

SN - 0041-5782

VL - 176

SP - 2466

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JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 26

M1 - V06130350

ER -

Fra mental retardering til målrettet behandling ved fragilt X-syndrom

Abstract

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