Periventricular heterotopia in fragile X syndrome

F. Moro, T. Pisano, B. Dalla Bernardina, R. Polli, A. Murgia, L. Zoccante, F. Darra, A. Battaglia, T. Pramparo, O. Zuffardi, R. Guerrini

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)713-715
Number of pages3
JournalNeurology
Volume67
Issue number4
DOIs
Publication statusPublished - Aug 2006

ASJC Scopus subject areas

  • Neuroscience(all)

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    Moro, F., Pisano, T., Bernardina, B. D., Polli, R., Murgia, A., Zoccante, L., Darra, F., Battaglia, A., Pramparo, T., Zuffardi, O., & Guerrini, R. (2006). Periventricular heterotopia in fragile X syndrome. Neurology, 67(4), 713-715. https://doi.org/10.1212/01.wnl.0000230223.51595.99