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

doi:10.1212/01.wnl.0000230223.51595.99

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

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	713-715
Number of pages	3
Journal	Neurology
Volume	67
Issue number	4
DOIs	https://doi.org/10.1212/01.wnl.0000230223.51595.99
Publication status	Published - Aug 2006

ASJC Scopus subject areas

Neuroscience(all)

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10.1212/01.wnl.0000230223.51595.99

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title = "Periventricular heterotopia in fragile X syndrome",

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.",

author = "F. Moro and T. Pisano and Bernardina, {B. Dalla} and R. Polli and A. Murgia and L. Zoccante and F. Darra and A. Battaglia and T. Pramparo and O. Zuffardi and R. Guerrini",

year = "2006",

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T1 - Periventricular heterotopia in fragile X syndrome

AU - Moro, F.

AU - Pisano, T.

AU - Bernardina, B. Dalla

AU - Polli, R.

AU - Murgia, A.

AU - Zoccante, L.

AU - Darra, F.

AU - Battaglia, A.

AU - Pramparo, T.

AU - Zuffardi, O.

AU - Guerrini, R.

PY - 2006/8

Y1 - 2006/8

N2 - 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.

AB - 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.

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JO - Neurology

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ER -

Periventricular heterotopia in fragile X syndrome

Abstract

ASJC Scopus subject areas

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