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

Research output: Contribution to journalJournal articleResearchpeer-review

Aia Elise Jønch, Karen Grønskov, Jytte Merete Carlsen Lunding, Jørgen E Nielsen, Karen Brøndum-Nielsen

Fragile 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.

Original languageDanish
Article numberV02140099
JournalUgeskrift for Laeger
Volume176
Issue number26
Pages (from-to)2-6
Number of pages5
ISSN0041-5782
Publication statusPublished - 23 Jun 2014

ID: 137201363