Fragile X-Associated neuropsychiatric disorders: A case report

Maria Melinda G Tan, Jeanne Barbara S Dy, Maria Jimena Salcedo-Arellano, Flora Tassone, Randi J Hagerman

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Mutations in the FMR1 gene have been associated with developmental or neurodegenerative disorders. The full mutation (>200 CGG repeats) results in Fragile X syndrome, the most common inherited cause of intellectual disability, while the premutation (55-200 CGG repeats) can lead to a range of problems including fragile X-Associated tremor/ataxia syndrome (FXTAS). Recently, a new distinctive name was proposed to recognize the associated disorders commonly found in premutation carriers and extensively reported in co-morbidities studies: fragile X-Associated neuropsychiatric disorders (FXAND). This paper will present a case report of a female premutation carrier with a complex psychiatric history, chronic pain, and sleep disturbances consistent with Fragile X-Associated neuropsychiatric disorders.

Original languageEnglish (US)
Article numberFNL14
JournalFuture Neurology
Volume14
Issue number2
DOIs
StatePublished - Jan 1 2019

Keywords

  • ADHD
  • anxiety
  • chronic pain
  • depression
  • FMR1
  • Fragile X-Associated neuropsychiatric disorders
  • FXAND
  • premutation carrier
  • psychiatric
  • sleep disorders

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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