Periventricular heterotopia in fragile X syndrome.
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.
Moro
F
F
IRCCS Fondazione Stella Maris, Pisa, Italy.
Pisano
T
T
Bernardina
B Dalla
BD
Polli
R
R
Murgia
A
A
Zoccante
L
L
Darra
F
F
Battaglia
A
A
Pramparo
T
T
Zuffardi
O
O
Guerrini
R
R
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
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human