Neurobehavioral characteristics of CGG amplification status in fragile X females.
Neurobehavioral correlates of CGG amplification were studied in 17 nonretarded adult female carriers of fragile X syndrome. The results revealed a significant relationship between IQ and the number of CGG repeats in the 5' untranslated region of the FMR1 gene. Women with a full mutation (> 200 CGG repeats) scored below average in IQ, visual-spatial perception, visual-spatial organization, and executive function. There were no differences in fine motor dexterity or memory as a function of CGG amplification status. A history of major depressive disorder was identified in 71% of the sample, but incidence of depression was not associated with the degree of CGG amplification. Schizotypal features were noted in 18%. No intellectual or neuropsychological deficit was found in women with a premutation (< 200 CGG repeats). Decrements in IQ, visual-spatial perception, and executive function appear to arise as a consequence of the CGG amplification.
Thompson
N M
NM
Department of Psychiatry, University of Texas Health Science Center-San Antonio, USA.
Gulley
M L
ML
Rogeness
G A
GA
Clayton
R J
RJ
Johnson
C
C
Hazelton
B
B
Cho
C G
CG
Zellmer
V T
VT
D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics* / Q000503:physiopathology* / Q000523:psychology; D006580:Genetic Carrier Screening; D006801:Humans; D007360:Intelligence; D008297:Male; D008568:Memory; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009483:Neuropsychological Tests; D016601:RNA-Binding Proteins / Q000235:genetics; D011930:Reaction Time; D012016:Reference Values; D012091:Repetitive Sequences, Nucleic Acid; D013028:Space Perception; D014796:Visual Perception
D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human