Fragile X clinical features and neurobiology

M. J. Leigh, R. J. Hagerman

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The fragile X family of disorders includes those with a full mutation [>200 cytosine-guanine-guanine (CGG) repeats] on the front end of the FMR1 gene who have fragile X syndrome characterized by intellectual disability and behavior problems, including anxiety, social deficits, hyperactivity, hyperarousal, and sometimes aggressive behavior. Also in this family are those with the premutation (55-200 CGG repeats) and they can suffer from the fragile X-associated primary ovarian insufficiency in approximately 20% of women, the fragile X-associated tremor/ataxia syndrome seen in 40% of males and 16% of females who are older than 50 years, and the fragile X-associated neuropsychiatric disorders (FXAND) occurring in approximately 50% of carriers and can include depression, anxiety, chronic fatigue, insomnia, and obsessive-compulsive behavior. The neurobiology associated with these disorders is reviewed in addition to the use of targeted treatments that have the potential to reverse neurobiological abnormalities.

Original languageEnglish (US)
Title of host publicationRosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationVolume 1
PublisherElsevier
Pages311-332
Number of pages22
ISBN (Electronic)9780128139554
DOIs
StatePublished - Jan 1 2020
Externally publishedYes

Keywords

  • FMRP
  • Fragile X syndrome
  • FXAND
  • FXPOI
  • FXTAS
  • Metformin
  • Premutation
  • Targeted treatments

ASJC Scopus subject areas

  • Medicine(all)

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