Genetic Counseling for FXTAS and FMR1-Associated Disorders
Since its identification in 2001, awareness of fragile X-associated tremor/ataxia syndrome (FXTAS) has increased. The number of patients and families impacted by the condition continues to grow. Families with and without a history of fragile X syndrome (FXS) are impacted. Patients are usually identified based on their neurological findings such as intentional tremor, balance and gait difficulties, cognitive impairment, and brain MRI abnormalities.
KeywordsGenetic Counseling Preimplantation Genetic Diagnosis FMR1 Gene Genetic Counseling Session Full Mutation
We thank Dr. Robert Hendren, Theresa Contenti, and Beverly Wardlaw for their continued support and efforts on behalf of our development work for fragile X-associated disorders. We thank Page Sorensen, junior specialist, for her work on this chapter as without her we would not have been able to complete the many details. We would also like to thank all the patients who have been diagnosed with FXTAS, those diagnosed with fragile X syndrome, and their many family members including those who have made contributions to this chapter. It is because of each of them that we continue to learn, change, and grow in our understanding of fragile X-associated disorders.
- Bourgeois, J., Coffey, S., Rivera, S., et al. 2009. A review of Fragile x premutation disorders – expanding the psychiatric perspective. J Clin Psychiatry 70(6): 852–862.Google Scholar
- Bourgeois, J. A., Farzin, F., Brunberg, J. A., et al. 2006. Dementia with mood symptoms in a fragile x premutation carrier with the fragile x-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine. J Neuropsychiatry Clin Neurosci 18(2): 171–177.PubMedCrossRefGoogle Scholar
- Coffey, S. M., Cook, K., Tartaglia, N., et al. 2008. Expanded clinical phenotype of women with the fmr1 premutation. Am J Med Genet A 146(8): 1009–1016.Google Scholar
- Filipovic-Sadic, S., Sah, S., Chen, L., Krosting, J., Sekinger, E., Zhang, W., Hagerman, P. J., Stenzel, T. T., Hadd, A., Latham, G. J., & Tassone, F. 2010 Mar. A novel FMR1 PCR method for the routine detection of low-abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem 56(3): 399–408.Google Scholar
- Gane, L. W., Flynn, L., Hagerman, R. J. 2005. Needs and priorities of FXTAS patients and spouses determined using q-sort methodology. Proceedings of the 12th International Workshop on Fragile X and X-Linked Mental Retardation, August 26–29, 2005, Williamsburg, VA.Google Scholar
- Hessl, D., Tassone, F., Loesch, D. Z., et al. 2005. Abnormal elevation of fmr1 mRNA is associated with psychological symptoms in individuals with the fragile x premutation. Am J Med Genet B Neuropsychiatr Genet 139(1): 115–121.Google Scholar
- Jacquemont, S., Hagerman, R. J., Leehey, M. A., et al. 2003. Penetrance of the fragile x-associated tremor/ataxia syndrome (FXTAS) in a premuation carrier population: initial results from a California family-based study. Proceedings of the 53rd Annual Meeting, Los Angeles, CA. Am J Hum Genet 73(Suppl 5)A10: 163.Google Scholar
- Nolin, S. L., Dobkin, C., Brown, W. T. 2003b. Molecular analysis of fragile x syndrome. Curr Protoc Hum Genet Chapter 9: Unit9.5.
- NSGC. 2005. Retrieved 12/1/2008, from http://www.nsgc.org/consumer/definitions.cfm
- Sherman, S. L., Taylor, K., Allen, E. G. 2007. Fmr1 premutation: a leading cause of inherited ovarian dysfunction.In Fragile sites: new discoveries and changing perspectives. I. Arrieta. Hauppauge, NY: Nova Science Publishers, pp. 299–320.Google Scholar
- Tassone, F., Adams, J., Berry-Kravis, E. M., et al. 2007. CGG repeat length correlates with age of onset of motor signs of the fragile x-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet 144(4): 566–569.Google Scholar