Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1

Détails

ID Serval
serval:BIB_96CF10C220B4
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1
Périodique
Lancet Neurology
Auteur(s)
Jacquemont  S., Hagerman  R. J., Hagerman  P. J., Leehey  M. A.
ISSN
1474-4422
Statut éditorial
Publié
Date de publication
01/2007
Peer-reviewed
Oui
Volume
6
Numéro
1
Pages
45-55
Notes
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Jan
Résumé
Recent advances in our understanding of the clinical and molecular features of the fragile-X mental-retardation 1 gene, FMR1, highlight the importance of single-gene disorders. 15 years after its discovery, FMR1 continues to reveal new and unexpected clinical presentations and molecular mechanisms. Loss of function of FMR1 is a model for neurodevelopmental and behavioural disorders, including mental retardation, autism, anxiety, and mood instability. In addition, overexpression and CNS toxicity of FMR1 mRNA causes a late-onset neurodegenerative disorder, the fragile-X-associated tremor/ataxia syndrome (FXTAS). A similar mechanism is probably involved in premature ovarian failure, which affects up to 20% of female carriers of an altered FMR1 gene.
Mots-clé
Adult Ataxia/drug therapy/*etiology Female Fragile X Mental Retardation Protein/biosynthesis/*genetics Fragile X Syndrome/*complications/drug therapy/*genetics Gene Expression/physiology Humans Male Menopause/genetics/physiology Middle Aged Pedigree RNA, Messenger Seizures/drug therapy/etiology Tremor/drug therapy/*etiology
Pubmed
Web of science
Création de la notice
28/02/2008 11:42
Dernière modification de la notice
20/08/2019 15:58
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