Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

Détails

ID Serval
serval:BIB_108E3B26B61B
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
Périodique
American Journal of Human Genetics
Auteur(s)
Hagerman  R. J., Leavitt  B. R., Farzin  F., Jacquemont  S., Greco  C. M., Brunberg  J. A., Tassone  F., Hessl  D., Harris  S. W., Zhang  L., Jardini  T., Gane  L. W., Ferranti  J., Ruiz  L., Leehey  M. A., Grigsby  J., Hagerman  P. J.
ISSN
0002-9297
Statut éditorial
Publié
Date de publication
05/2004
Peer-reviewed
Oui
Volume
74
Numéro
5
Pages
1051-6
Notes
Case Reports
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.
Mots-clé
Adult Age of Onset Aged Aged, 80 and over Ataxia/*genetics/pathology Female Fragile X Mental Retardation Protein Fragile X Syndrome/*genetics Genotype *Heterozygote Humans Male Middle Aged Nerve Tissue Proteins/*genetics *RNA-Binding Proteins Tremor/*genetics/pathology Trinucleotide Repeats/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
28/02/2008 11:42
Dernière modification de la notice
20/08/2019 13:37
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