Fragile X syndrome and associated disorders in adulthood

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1 Scopus citations

Abstract

Although fragile X syndrome is typically considered a pediatric developmental disorder, many manifestations persist or develop in adulthood. Manifestations depend on the length of the CGG repeat at the front end of the FMR1 gene. Patients with the premutation (55 to 200 repeats) have typically normal cognitive abilities. With increasing age, however, consequences of RNA toxicity, including primary ovarian insufficiency, the fragile X-associated tremor ataxia syndrome, fibromyalgia, hypothyroidism, neuropathy, and psychiatric problems including anxiety and depression, may develop. Patients with the full mutation (greater than 200 CGG repeats) have significant cognitive impairment ranging from learning disabilities, particularly in girls, to severe intellectual disability and autism in males. Medical problems are usually related to connective-tissue abnormalities, seizures, or psychiatric problems, including mood instability, anxiety, and/or aggression.

Original languageEnglish (US)
Pages (from-to)32-49
Number of pages18
JournalCONTINUUM Lifelong Learning in Neurology
Volume15
Issue number6
DOIs
StatePublished - Dec 2009

Keywords

  • The premutation produces excess mRNA leading to an RNA toxicity causing fragile X-associated tremor ataxia syndrome (FXTAS) and primary ovarian insufficiency
  • Whereas the full mutation produces little or no mRNA and a lack of FMRP
  • Which leads to fragile X syndrome (FXS). The molecular mechanisms of involvement are therefore different between the premutation and the full mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

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