TY - JOUR

T1 - Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer

AU - Jønch, Aia Elise

AU - Grønskov, Karen

AU - Carlsen Lunding, Jytte Merete

AU - Nielsen, Jørgen E

AU - Brøndum-Nielsen, Karen

PY - 2014/6/23

Y1 - 2014/6/23

N2 - Carriers of fragile X syndrome can present with a broad spectrum of clinical disordersFragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct disorders caused by expansions of a CGG repeat sequence in the non-coding part of the FMR1. FXTAS and FXPOI are seen in carriers of smaller repeat expansions (55-200). Carriers were for many years thought to be clinically unaffected, but along with the discovery of FXPOI and FXTAS a growing number of additional clinical manifestations have been identified. We wish to make Danish physicians more aware of these conditions which we review in this paper.

AB - Carriers of fragile X syndrome can present with a broad spectrum of clinical disordersFragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct disorders caused by expansions of a CGG repeat sequence in the non-coding part of the FMR1. FXTAS and FXPOI are seen in carriers of smaller repeat expansions (55-200). Carriers were for many years thought to be clinically unaffected, but along with the discovery of FXPOI and FXTAS a growing number of additional clinical manifestations have been identified. We wish to make Danish physicians more aware of these conditions which we review in this paper.

M3 - Tidsskriftartikel

C2 - 25294575

VL - 176

SP - 2

EP - 6

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 26

M1 - V02140099

ER -