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.
authors.affiliation: IRCCS Fondazione Stella Maris, Pisa, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Moro
authors.forename: T
authors.initials: T
authors.lastname: Pisano
authors.forename: B Dalla
authors.initials: BD
authors.lastname: Bernardina
authors.forename: R
authors.initials: R
authors.lastname: Polli
authors.forename: A
authors.initials: A
authors.lastname: Murgia
authors.forename: L
authors.initials: L
authors.lastname: Zoccante
authors.forename: F
authors.initials: F
authors.lastname: Darra
authors.forename: A
authors.initials: A
authors.lastname: Battaglia
authors.forename: T
authors.initials: T
authors.lastname: Pramparo
authors.forename: O
authors.initials: O
authors.lastname: Zuffardi
authors.forename: R
authors.initials: R
authors.lastname: Guerrini
mesh_terms: D000293:Adolescent; D001927:Brain Diseases / Q000473:pathology*; D002552:Cerebral Ventricles / Q000473:pathology*; D002675:Child, Preschool; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics* / Q000473:pathology*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human