Fragile X-Associated Disorders

Scott M. Summers, Randi J Hagerman

Research output: Chapter in Book/Report/Conference proceedingChapter


Fragile X protein (FMRP) produced by the FMR1 gene is a key protein in the regulation of translation of hundreds of messenger RNAs important for brain development, neurogenesis in aging, and synaptic plasticity. With a full mutation in FMR1 there is little or no FMRP, leading to fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism. Premutation carriers have higher rates of anxiety and depression, and medical, endocrine, and neurological problems with aging. The premutation is the most common cause of early menopause; approximately 20% of female carriers have fragile X-associated primary ovarian insufficiency. The neurodegenerative disorder fragile X-associated tremor/ataxia syndrome occurs in most male carriers as they age and in 16% of female carriers. The spectrum of involvement from premutation to full mutation is diagnosed by DNA tests. Identification of fragile X disorders will facilitate future targeted treatments, which could reverse the features of FXS and premutation disorders.

Original languageEnglish (US)
Title of host publicationNeurobiology of Brain Disorders: Biological Basis of Neurological and Psychiatric Disorders
PublisherElsevier Inc.
Number of pages10
ISBN (Print)9780123982803, 9780123982704
StatePublished - Dec 3 2014


  • Autism
  • FMR1
  • Fragile X protein
  • Fragile X syndrome
  • Fragile X-associated primary ovarian insufficiency
  • Fragile X-associated tremor/ataxia syndrome
  • Intellectual disability
  • MRNA toxicity
  • Premature ovarian insufficiency
  • Trinucleotide expansion

ASJC Scopus subject areas

  • Medicine(all)


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