Investigation of Amygdala Volume in Men with the Fragile X Premutation

Overview

Journal Brain Imaging Behav

Publisher Springer

Specialties Neurology
Psychology
Radiology
Social Sciences

Date 2011 Jul 26

PMID 21786216

Citations 4

Authors

Diana Selmeczy

Kami Koldewyn

John M Wang

Aaron Lee

Danielle Harvey

David R Hessl

Flora Tassone

Patrick Adams

Randi J Hagerman

Paul J Hagerman

Susan M Rivera

Affiliations

Soon will be listed here.

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.

Citing Articles

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review.

Elias-Mas A, Alvarez-Mora M, Caro-Benito C, Rodriguez-Revenga L Front Psychiatry. 2021; 12:728952.

PMID: 34721105 PMC: 8554234. DOI: 10.3389/fpsyt.2021.728952.

Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

Robertson E, Hall D, McAsey A, OKeefe J Clin Neuropsychol. 2016; 30(6):849-900.

PMID: 27414076 PMC: 7336900. DOI: 10.1080/13854046.2016.1202239.

COGNITIVE DYSFUNCTION IN PREMUTATION CARRIERS.

Seritan A, Cogswell J, Grigsby J Curr Psychiatry Rev. 2015; 9(1):78-84.

PMID: 25620901 PMC: 4304642. DOI: 10.2174/157340013805289635.

Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism.

Losh M, Klusek J, Martin G, Sideris J, Parlier M, Piven J Am J Med Genet B Neuropsychiatr Genet. 2012; 159B(6):660-8.

PMID: 22693142 PMC: 3740587. DOI: 10.1002/ajmg.b.32070.

References

Tassone F, Iwahashi C, Hagerman P . FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol. 2006; 1(2):103-5. DOI: 10.4161/rna.1.2.1035. View

Hagerman P, Hagerman R . The fragile-X premutation: a maturing perspective. Am J Hum Genet. 2004; 74(5):805-16. PMC: 1181976. DOI: 10.1086/386296. View

Moore C, Daly E, Schmitz N, Tassone F, Tysoe C, Hagerman R . A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia. 2004; 42(14):1934-47. DOI: 10.1016/j.neuropsychologia.2004.05.002. View

Iwahashi C, Tassone F, Hagerman R, Yasui D, Parrott G, Nguyen D . A quantitative ELISA assay for the fragile x mental retardation 1 protein. J Mol Diagn. 2009; 11(4):281-9. PMC: 2710703. DOI: 10.2353/jmoldx.2009.080118. View

Tassone F, Beilina A, Carosi C, Albertosi S, Bagni C, Li L . Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA. 2007; 13(4):555-62. PMC: 1831862. DOI: 10.1261/rna.280807. View

Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E . Fragile X genotype characterized by an unstable region of DNA. Science. 1991; 252(5009):1179-81. DOI: 10.1126/science.252.5009.1179. View

Feng Y, Zhang F, Lokey L, Chastain J, Lakkis L, Eberhart D . Translational suppression by trinucleotide repeat expansion at FMR1. Science. 1995; 268(5211):731-4. DOI: 10.1126/science.7732383. View

Cohen S, Masyn K, Adams J, Hessl D, Rivera S, Tassone F . Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology. 2006; 67(8):1426-31. DOI: 10.1212/01.wnl.0000239837.57475.3a. View

Johnston C, Eliez S, Hessl D, Glaser B, Blasey C, Taylor A . Neurobehavioral phenotype in carriers of the fragile X premutation. Am J Med Genet. 2001; 103(4):314-9. View

10.

Hagerman R, Hagerman P . The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev. 2002; 12(3):278-83. DOI: 10.1016/s0959-437x(02)00299-x. View

11.

Tassone F, Hagerman R, Taylor A, Gane L, Godfrey T, Hagerman P . Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet. 2000; 66(1):6-15. PMC: 1288349. DOI: 10.1086/302720. View

12.

Cornish K, Kogan C, Turk J, Manly T, James N, Mills A . The emerging fragile X premutation phenotype: evidence from the domain of social cognition. Brain Cogn. 2005; 57(1):53-60. DOI: 10.1016/j.bandc.2004.08.020. View

13.

Adams J, ADAMS P, Nguyen D, Brunberg J, Tassone F, Zhang W . Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology. 2007; 69(9):851-9. DOI: 10.1212/01.wnl.0000269781.10417.7b. View

14.

Tassone F, Pan R, Amiri K, Taylor A, Hagerman P . A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn. 2008; 10(1):43-9. PMC: 2175542. DOI: 10.2353/jmoldx.2008.070073. View

15.

Inoue S, Siomi M, Siomi H . Molecular mechanisms of fragile X syndrome. J Med Invest. 2000; 47(3-4):101-7. View

16.

Amiri K, Hagerman R, Hagerman P . Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene. Arch Neurol. 2008; 65(1):19-25. DOI: 10.1001/archneurol.2007.30. View

17.

Brouwer J, Willemsen R, Oostra B . The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am J Med Genet B Neuropsychiatr Genet. 2008; 150B(6):782-98. PMC: 4320942. DOI: 10.1002/ajmg.b.30910. View

18.

Bourgeois J, Coffey S, Rivera S, Hessl D, Gane L, Tassone F . A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009; 70(6):852-62. PMC: 2705685. DOI: 10.4088/JCP.08m04476. View

19.

Roberts J, Bailey Jr D, Mankowski J, Ford A, Sideris J, Weisenfeld L . Mood and anxiety disorders in females with the FMR1 premutation. Am J Med Genet B Neuropsychiatr Genet. 2008; 150B(1):130-9. DOI: 10.1002/ajmg.b.30786. View

20.

Hessl D, Tassone F, Loesch D, Berry-Kravis E, Leehey M, Gane L . Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet. 2005; 139B(1):115-21. DOI: 10.1002/ajmg.b.30241. View