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NEUROLOGY 2006;67:713-715
© 2006 American Academy of Neurology
Brief Communications

Periventricular heterotopia in fragile X syndrome

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

From the IRCCS Fondazione Stella Maris (F.M., T.P., A.B., R.G.), Pisa, Italy; Division of Child Neurology and Psychiatry (R.G.), University of Pisa, Pisa, Italy; Child Neuropsychiatry Unit (B.D.B., L.Z., F.D.), University of Verona, Verona, Italy; Department of Pediatrics (R.P., A.M.), University of Padua, Padua, Italy; Genetica Medica (T.P., O.Z.), Università di Pavia, Pavia, Italy; and IRCCS Policlinico San Matteo (O.Z.), Pavia, Italy.

Address correspondence and reprint requests to Dr. Renzo Guerrini, Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, via dei Giacinti 2, 56018 Calambrone Pisa, Italy; e-mail: renzo.guerrini{at}inpe.unipi.it

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.

*These authors contributed equally to this article.

Supported in part by grants from the Fondazione Mariani (grant R-04-35 to Drs. Moro, Pisano, and Guerrini) and the Telethon Foundation (grant GGP05177 to Drs. Pramparo, Zuffardi, and Guerrini).

Disclosure: The authors report no conflicts of interest.

Received December 23, 2005. Accepted in final form April 19, 2006.




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