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Insular volume reduction in fragile X syndrome.

Fragile X syndrome (FraX) is the most common form of inherited mental deficit and is caused by mutations of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome. While males and females with the full FMR1 mutation are affected differently because the disorder is X-linked, both suffer from varying degrees of cognitive impairment, attention deficits and social anxiety. The insula is a sensory integrative region that has been increasingly suggested as a critical area involved in anxiety manifestation. The current study was designed to examine possible changes in insular volume in FraX compared to age- and gender-matched typically developing healthy controls (HC) as well as age-, gender-, and intelligence-matched developmentally delayed controls (DD). An established native-space, manual morphometry method was utilized to quantify total and regional insular volumes using structural magnetic resonance imaging. Total, anterior and posterior insular volumes were found to be reduced in FraX compared to both HC and DD. The current data add to a growing literature concerning brain abnormalities in FraX and suggests that significant volume reduction of the insula is a component of the FraX neuroanatomical phenotype. This finding also provides an intriguing potential neural correlate for hyperarousal and gaze aversion, which are prominent behavioral symptoms of FraX.

Pubmed ID: 21291994


  • Cohen JD
  • Nichols T
  • Brignone L
  • Hall SS
  • Reiss AL


International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Publication Data

June 16, 2011

Associated Grants

  • Agency: NIMH NIH HHS, Id: R01 MH050047
  • Agency: NIMH NIH HHS, Id: R01 MH050047-10
  • Agency: NIMH NIH HHS, Id: R01 MH064708
  • Agency: NIMH NIH HHS, Id: R01 MH064708-05
  • Agency: NIMH NIH HHS, Id: R01MH050047
  • Agency: NIMH NIH HHS, Id: R01MH064708
  • Agency: NIMH NIH HHS, Id: T32 MH019908
  • Agency: NIMH NIH HHS, Id: T32 MH019908-11
  • Agency: NIMH NIH HHS, Id: T32MH019908

Mesh Terms

  • Adolescent
  • Cerebral Cortex
  • Female
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome
  • Humans
  • Male
  • Young Adult