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

Sebastien Jacquemont, Randi J Hagerman, Paul J Hagerman, Maureen A. Leehey

Research output: Contribution to journalArticle

171 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)45-55
Number of pages11
JournalLancet Neurology
Volume6
Issue number1
DOIs
StatePublished - Jan 2007

ASJC Scopus subject areas

  • Clinical Neurology

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