Testing for fragile X gene mutations throughout the life span

JAMA

Volumn 300, Issue 20, 2008, Pages 2419-2421

  Hagerman, Randi J ^a,b,c   Hagerman, Paul J ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GLUTAMATE RECEPTOR; MESSENGER RNA;

ALLELE; ATAXIA; AUTISM; CELLULAR STRESS RESPONSE; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; EARLY MENOPAUSE; FRAGILE X SYNDROME; GENE MUTATION; GENETIC COUNSELING; HUMAN; LIFESPAN; LONG TERM DEPRESSION; NEWBORN SCREENING; NONHUMAN; NOTE; PRIORITY JOURNAL; SCREENING; SYNAPSE; TRINUCLEOTIDE REPEAT;

EID: 57049092347     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2008.684     Document Type: Note

References (15)

1. Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. 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):43-49.
2. Bailey DB Jr, Skinner D, Sparkman KL. Discovering fragile X syndrome: family experiences and perceptions. Pediatrics. 2003;111(2):407-416.
3. Loesch DZ, Bui QM, Dissanayake C, et al. Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev. 2007; 31(3):315-326.
4. Farzin F, Perry H, Hessl D, et al. Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr. 2006;27(2)(suppl):S137-S144.
5. Song FJ, Barton P, Sleightholme V, Yao GL, Fry-Smith A. Screening for fragile X syndrome: a literature review and modeling study. Health Technol Assess. 2003; 7(16):1-106.
6. Iwahashi CK, Yasui DH, An HJ, et al. Protein composition of the intranuclear inclusions of FXTAS. Brain. 2006;129(pt 1):256-271.
7. Jacquemont S, Hagerman RJ, Leehey MA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004; 291(4):460-469.
8. Coffey SM, Cook K, Tartaglia N, et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A. 2008;146(8):1009-1016.
9. Roberts JE, Bailey DB Jr, Mankowski J, et al. Mood and anxiety disorders in females with the FMR1 premutation [published online ahead of print June 13, 2008]. Am J Med Genet B Neuropsychiatr Genet. doi:10.1002/ajmg.b.30786.
10. Greco CM, Soontarapornchai K, Wirojanan J, Gould JE, Hagerman PJ, Hagerman RJ. Testicular and pituitary inclusion formation in fragile X associated tremor /ataxia syndrome. J Urol. 2007;177(4):1434-1437.
11. Hall DA, Berry-Kravis E, Jacquemont S, et al. Initial diagnoses given to persons with the fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology. 2005;65(2):299-301.
12. Sullivan AK, Marcus M, Epstein MP, et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod. 2005;20(2):402-412.
13. Hagerman RJ, Berry-Kravis E, Kaufmann WE, et al. Advances in the treatment of fragile X syndrome. Pediatrics. In press.
14. Hagerman RJ, Hall DA, Coffey S, et al. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging. 2008;3(2):251-262.
15. Bear MF. Therapeutic implications of the mGluR theory of fragile X mental retardation. Genes Brain Behav. 2005;4(6):393-398.