title: Investigation of amygdala volume in men with the fragile X premutation.
abstract: Premutation fragile X carriers have a CGG repeat expansion (55 to 200 repeats) in the promoter region of the fragile X mental retardation 1 (FMR1) gene. Amygdala dysfunction has been observed in premutation symptomatology, and recent research has suggested the amygdala as an area susceptible to the molecular effects of the premutation. The current study utilizes structural magnetic resonance imaging (MRI) to examine the relationship between amygdala volume, CGG expansion size, FMR1 mRNA, and psychological symptoms in male premutation carriers without FXTAS compared with age and IQ matched controls. No significant between group differences in amygdala volume were found. However, a significant negative correlation between amygdala volume and CGG was found in the lower range of CGG repeat expansions, but not in the higher range of CGG repeat expansions.
authors.affiliation: Center for Mind and Brain, University of California, 202 Cousteau Place, Suite 250, Davis, CA 95618, USA.
authors.forename: Diana
authors.initials: D
authors.lastname: Selmeczy
authors.forename: Kami
authors.initials: K
authors.lastname: Koldewyn
authors.forename: John M
authors.initials: JM
authors.lastname: Wang
authors.forename: Aaron
authors.initials: A
authors.lastname: Lee
authors.forename: Danielle
authors.initials: D
authors.lastname: Harvey
authors.forename: David R
authors.initials: DR
authors.lastname: Hessl
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Patrick
authors.initials: P
authors.lastname: Adams
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Hagerman
authors.forename: Susan M
authors.initials: SM
authors.lastname: Rivera
mesh_terms: D000293:Adolescent; D000368:Aged; D000483:Alleles; D000679:Amygdala / Q000473:pathology*; D004247:DNA / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics* / Q000473:pathology* / Q000523:psychology; D006579:Heterozygote; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D019680:Trinucleotide Repeat Expansion; D014888:Wechsler Scales; D055815:Young Adult
chemical_list: D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D012333:RNA, Messenger; C497683:FMR1 protein, human