Titre
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
Type
étude de cas
Institution
Externe
Périodique
Auteur(s)
Hagerman, R. J.
Auteure/Auteur
Leavitt, B. R.
Auteure/Auteur
Farzin, F.
Auteure/Auteur
Jacquemont, S.
Auteure/Auteur
Greco, C. M.
Auteure/Auteur
Brunberg, J. A.
Auteure/Auteur
Tassone, F.
Auteure/Auteur
Hessl, D.
Auteure/Auteur
Harris, S. W.
Auteure/Auteur
Zhang, L.
Auteure/Auteur
Jardini, T.
Auteure/Auteur
Gane, L. W.
Auteure/Auteur
Ferranti, J.
Auteure/Auteur
Ruiz, L.
Auteure/Auteur
Leehey, M. A.
Auteure/Auteur
Grigsby, J.
Auteure/Auteur
Hagerman, P. J.
Auteure/Auteur
Liens vers les personnes
ISSN
0002-9297
Statut éditorial
Publié
Date de publication
2004-05
Volume
74
Numéro
5
Première page
1051
Dernière page/numéro d’article
6
Peer-reviewed
Oui
Notes
Case Reports
Comparative Study
Journal Article
Research Support, U.S. Gov't, P.H.S. --- Old month value: May
Comparative Study
Journal Article
Research Support, U.S. Gov't, P.H.S. --- Old month value: May
Résumé
We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X-associated tremor/ataxia syndrome (FXTAS). Unlike their male counterparts with FXTAS, none of the women had dementia. Females had not been reported in previous studies of FXTAS, suggesting that they may be relatively protected from this disorder. Brain tissue was available from one of the five subjects, a women who died at age 85 years; microscopic examination revealed intranuclear neuronal and astrocytic inclusions, in accord with the findings previously reported in males with FXTAS. The work-up of families with the FMR1 mutation should include questions regarding neurological symptoms in both older male and female carriers, with the expectation that females may also manifest the symptoms of FXTAS, although more subtly and less often than their male counterparts.
Sujets
PID Serval
serval:BIB_108E3B26B61B
PMID
Open Access
Oui
Date de création
2008-02-28T09:42:37.486Z
Date de création dans IRIS
2025-05-20T17:44:58Z