Towards an understanding of neuropsychiatric manifestations in fragile X premutation carriers

Aaron D. Besterman, Scott A. Wilke, Tua Elisabeth Mulligan, Stephen C. Allison, Randi J Hagerman, Andreea L. Seritan, James A. Bourgeois

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Fragile X-associated disorders are a group of disorders caused by expansion of noncoding CGG repeat elements in the fragile X (FMR1) gene. One of these disorders, fragile X syndrome, is the most common heritable cause of intellectual disability, and is caused by large CGG repeat expansions (>200) resulting in silencing of the FMR1 gene. An increasingly recognized number of neuropsychiatric fragile X-associated disorders have recently been identified that are caused by 'premutation' range expansions (55-200). These disorders are characterized by a spectrum of neuropsychiatric manifestations ranging from an increased risk of neurodevelopmental, mood and anxiety disorders to neurodegenerative phenotypes, such as the fragile X-associated tremor ataxia syndrome. This article reviews the advances in the clinical understanding of neuropsychiatric disorders in premutation carriers across the lifespan and offers guidance for the detection of such disorders by practicing psychiatrists and neurologists.

Original languageEnglish (US)
Pages (from-to)227-239
Number of pages13
JournalFuture Neurology
Volume9
Issue number2
DOIs
StatePublished - 2014

Fingerprint

Fragile X Syndrome
Gene Silencing
Anxiety Disorders
Mood Disorders
Intellectual Disability
Psychiatry
Phenotype
Genes
Neurologists
Fragile X Tremor Ataxia Syndrome
Neurodevelopmental Disorders

Keywords

  • ADHD
  • anxiety
  • ASD
  • autism
  • depression
  • FMR1
  • fragile X premutation
  • fragile X syndrome
  • fragile X-associated tremor ataxia syndrome
  • FXTAS

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Besterman, A. D., Wilke, S. A., Mulligan, T. E., Allison, S. C., Hagerman, R. J., Seritan, A. L., & Bourgeois, J. A. (2014). Towards an understanding of neuropsychiatric manifestations in fragile X premutation carriers. Future Neurology, 9(2), 227-239. https://doi.org/10.2217/fnl.14.11

Towards an understanding of neuropsychiatric manifestations in fragile X premutation carriers. / Besterman, Aaron D.; Wilke, Scott A.; Mulligan, Tua Elisabeth; Allison, Stephen C.; Hagerman, Randi J; Seritan, Andreea L.; Bourgeois, James A.

In: Future Neurology, Vol. 9, No. 2, 2014, p. 227-239.

Research output: Contribution to journalArticle

Besterman, AD, Wilke, SA, Mulligan, TE, Allison, SC, Hagerman, RJ, Seritan, AL & Bourgeois, JA 2014, 'Towards an understanding of neuropsychiatric manifestations in fragile X premutation carriers', Future Neurology, vol. 9, no. 2, pp. 227-239. https://doi.org/10.2217/fnl.14.11
Besterman, Aaron D. ; Wilke, Scott A. ; Mulligan, Tua Elisabeth ; Allison, Stephen C. ; Hagerman, Randi J ; Seritan, Andreea L. ; Bourgeois, James A. / Towards an understanding of neuropsychiatric manifestations in fragile X premutation carriers. In: Future Neurology. 2014 ; Vol. 9, No. 2. pp. 227-239.
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