title: [Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders].
abstract: 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.
authors.affiliation: Klinisk Genetisk Klinik, Kennedy Centret, Juliane Marie Centret, Gl. Landevej 7, 2600 Glostrup. E-mail: aia.elise.joench@regionh.dk.
authors.forename: Aia Elise
authors.initials: AE
authors.lastname: Jønch
authors.forename: Karen
authors.initials: K
authors.lastname: Grønskov
authors.forename: Jytte Merete
authors.initials: JM
authors.lastname: Carlsen Lunding
authors.forename: Jørgen E
authors.initials: JE
authors.lastname: Nielsen
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
mesh_terms: D001259:Ataxia / Q000175:diagnosis / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000235:genetics; D014202:Tremor / Q000175:diagnosis / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human