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.
Periventricular heterotopia in fragile X syndrome / Moro F; Pisano T; Bernardina BD; Polli R; Murgia A; Zoccante L; Darra F; Battaglia A; Pramparo T; Zuffardi O; Guerrini R.. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 67 (4):(2006), pp. 713-715. [10.1212/01.wnl.0000230223.51595.99]
Periventricular heterotopia in fragile X syndrome.
GUERRINI, RENZO
2006
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.
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