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Lancet Neurol. 2007 Jan;6(1):45-55.

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

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Service de Génétique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.


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.

[Indexed for MEDLINE]

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