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J Clin Invest. 2012 Dec;122(12):4314-22. doi: 10.1172/JCI63141. Epub 2012 Dec 3.

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.

Author information

1
Katholieke Universiteit Leuven, Center for Human Genetics, Leuven, Belgium. claudia.bagni@med.kuleuven.be

Abstract

Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet expansion that inhibits expression of the FMR1 gene; the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology. While there is no definitive cure for FXS, the understanding of FMRP function has paved the way for rational treatment designs that could potentially reverse many of the neurobiological changes observed in FXS. Additionally, behavioral, pharmacological, and cognitive interventions can raise the quality of life for both patients and their families.

PMID:
23202739
PMCID:
PMC3533539
DOI:
10.1172/JCI63141
[Indexed for MEDLINE]
Free PMC Article

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