Periventricular heterotopia in fragile X syndrome

Neurology. 2006 Aug 22;67(4):713-5. doi: 10.1212/01.wnl.0000230223.51595.99.

Abstract

The authors describe two unrelated individuals with fragile X syndrome (FXS) due to marked expansion and instability of the CGG trinucleotide repeats within the fragile X mental retardation 1 gene (FMR1) and periventricular heterotopia (PH). This observation suggests that the FMR1 gene is involved in neuronal migration and that abnormal neuronal migration, even beyond the resolution of MRI, contributes to the neurologic phenotype of FXS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Brain Diseases / pathology*
  • Cerebral Ventricles / pathology*
  • Child, Preschool
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / pathology*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein

Associated data

  • OMIM/309550