Genetic counseling for FXTAS and FMR1-associated disorders

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

Volumn , Issue , 2010, Pages 155-176

  Gane, Louise W ^a   Howard, Katherine ^b   Abrams, Liane ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c National Fragile X Foundation   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84919840830     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4419-5805-1_10     Document Type: Chapter

References (51)

1. Alexopoulos, G. S., Raue, P., Arean, P. 2003. Problem-solving therapy versus supportive therapy in geriatric major depression with executive dysfunction. Am J Geriatr Psychiatry 11(1):46-52.
2. Apessos, A., Abou-Sleiman, P. M., Harper, J. C., et al. 2001. Preimplantation genetic diagnosis of the fragile x syndrome by use of linked polymorphic markers. Prenat Diagn 21(6):504-511.
3. Aziz, M., Stathopulu, E., Callias, M., et al. 2003. Clinical features of boys with fragile x premutations and intermediate alleles. Am J Med Genet 121 B (1):119-127.
4. Bacalman, S., Farzin, F., Bourgeois, J. A., et al. 2006. Psychiatric phenotype of the fragile x-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry 67(1):87-94.
5. Bombard, Y., Penziner, E., Suchowersky, O., et al. 2008. Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease. Eur J Hum Genet 16(3):279-289.
6. 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.
7. 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.
8. Cameron, J. I., Cheung, A. M., Streiner, D. L., et al. 2006. Stroke survivors' behavioral and psychologic symptoms are associated with informal caregivers' experiences of depression. Arch Phys Med Rehabil 87(2):177-183.
9. Cameron, J. I., Franche, R. L., Cheung, A. M., et al. 2002. Lifestyle interference and emotional distress in family caregivers of advanced cancer patients. Cancer 94(2):521-527.
10. Castellvi Bel, S., Mila, M., Soler, A., et al. 1995. Prenatal diagnosis of fragile X syndrome: (CGG) n expansion and methylation of chorionic villus samples. Prenat Diagn 15(9):801-807.
11. Clifford, S., Dissanayake, C., Bui, Q. M., et al. 2007. Autism spectrum phenotype in males and females with fragile x full mutation and premutation. J Autism Dev Disord 37(4):738-747.
12. 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.
13. Cornish, K. M., Sudhalter, V., Turk, J. 2004. Attention and language in fragile x. Ment Retard Dev Disabil Res Rev 10(1):11-16.
14. Cran, D. G., Johnson, L. A. 1996. The predetermination of embryonic sex using flow cytometrically separated x and y spermatozoa. Hum Reprod Update 2(4):355-363.
15. Curlis, Y., Zhang, C., Holden, J. J., et al. 2005. Haplotype study of intermediate-length alleles at the fragile x (fmr1) gene: Atl1, fmrb, and microsatellite haplotypes differ from those found in common-size fmr1 alleles. Hum Biol 77(1):137-151.
16. De Jong, A., De Wert, G. 2002. Screening for carriers of the fragile x syndrome; ethical exploration. Ned Tijdschr Geneeskd 146(13):611-615.
17. Farzin, F., Perry, H., Hessl, D., et al. 2006. Autism spectrum disorders and attentiondeficit/hyperactivity disorder in boys with the fragile x premutation. J Dev Behav Pediatr 27 (2 Suppl):S137-S144.
18. 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.
19. 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.
20. Geraedts, J. P., Harper, J., Braude, P., et al. 2001. Preimplantation genetic diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres. Prenat Diagn 21(12):1086-1092.
21. Goodlin-Jones, B., Tassone, F., Gane, L. W., et al. 2004. Autistic spectrum disorder and the fragile x premutation. J Dev Behav Pediatr 25(6):392-398.
22. Grasso, M., Faravelli, F., Nigro, C. L., et al. 1999. Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the fmr1 gene in eight fragile x patients. Am J Med Genet 85(3):311-316.
23. Grigsby, J., Brega, A. G., Jacquemont, S., et al. 2006. Impairment in the cognitive functioning of men with fragile x-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci 248(1-2):227-233.
24. Grunfeld, E., Coyle, D., Whelan, T., et al. 2004. Family caregiver burden: results of a longitudinal study of breast cancer patients and their principal caregivers. CMAJ 170(12):1795-1801.
25. Hagerman, P. J., Hagerman, R. J. 2004. The fragile-x premutation: a maturing perspective. Am J Hum Genet 74(5):805-816.
26. Hagerman, R. J. 2006. Lessons from fragile x regarding neurobiology, autism, and neurodegeneration. J Dev Behav Pediatr 27(1):63-74.
27. Hagerman, R. J., Hall, D. A., Coffey, S., et al. 2008. Treatment of fragile x-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging 3(2):251-262.
28. Hessl, D., Glaser, B., Dyer-Friedman, J., et al. 2006. Social behavior and cortisol reactivity in children with fragile x syndrome. J Child Psychol Psychiatry 47(6):602-610.
29. 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.
30. Jacquemont, S., Farzin, F., Hall, D., et al. 2004a. Aging in individuals with the fmr1 mutation. Am J Ment Retard 109(2):154-164.
31. 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.
32. Jacquemont, S., Hagerman, R. J., Leehey, M. A., et al. 2004b. Penetrance of the fragile x-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 291(4):460-469.
33. Keysor, C. S., Mazzocco, M. M. 2002. A developmental approach to understanding fragile x syndrome in females. Microsc Res Tech 57(3):179-186.
34. Leehey, M. A., Berry-Kravis, E., Min, S. J., et al. 2007. Progression of tremor and ataxia in male carriers of the fmr1 premutation. Mov Disord 22(2):203-206.
35. McConkie-Rosell, A., Abrams, L., Finucane, B., et al. 2007. Recommendations from multidisciplinary focus groups on cascade testing and genetic counseling for fragile x-associated disorders. J Genet Couns 16(5):593-606.
36. Mila, M., Mallolas, J. 2001. Fragile x syndrome: premature ovarian failure. Preimplantation and preconception genetic diagnosis. Rev Neurol 33(Suppl 1):S20-S23.
37. Nolin, S. L., Brown, W. T., Glicksman, A., et al. 2003a. Expansion of the fragile x CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 72(2):454-464.
38. Nolin, S. L., Dobkin, C., Brown, W. T. 2003b. Molecular analysis of fragile x syndrome. Curr Protoc Hum Genet Chapter 9: Unit9.5.
39. Nolin, S. L., Lewis, F. A., 3rd, Ye, L. L., et al. 1996. Familial transmission of the fmr1 CGG repeat. Am J Hum Genet 59(6):1252-1261.
40. NSGC. 2005. Retrieved 12/1/2008, from www.nsgc.org/consumer/definitions.cfm
41. Penagarikano, O., Mulle, J. G., Warren, S. T. 2007. The pathophysiology of fragile x syndrome. Annu Rev Genomics Hum Genet 8:109-129.
42. Platteau, P., Sermon, K., Seneca, S., et al. 2002. Preimplantation genetic diagnosis for fragile xa syndrome: difficult but not impossible. Hum Reprod 17(11):2807-2812.
43. Pozdnyakova, I., Regan, L. 2005. New insights into fragile x syndrome. Relating genotype to phenotype at the molecular level. FEBS J 272(3):872-878.
44. Roberts, J. E., Bailey, D. B., Jr., Mankowski, J., et al. 2008. Mood and anxiety disorders in females with the fmr1 premutation. Am J Med Genet B Neuropsychiatr Genet 147B:1138-1144.
45. Seritan, A. L., Nguyen, D. V., Farias, S. T., et al. 2008. Dementia in fragile x-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet 147 B (7):1138-1144.
46. 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.
47. 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.
48. Tassone, F., Hagerman, R. J., Taylor, A. K., et al. 2000. Elevated levels of fmr1 mRNA in carrier males: a new mechanism of involvement in the fragile-x syndrome. Am J Hum Genet 66(1):6-15.
49. Tassone, F., Pan, R., Amiri, K., et al. 2008. 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 10(1):43-49.
50. Wingrove, K. J., Norris, J., Barton, P. L., et al. 1996. Experiences and attitudes concerning genetic testing and insurance in a Colorado population: a survey of families diagnosed with fragile x syndrome. Am J Med Genet 64(2):378-381.
51. Wirojanan, J., Angkustsiri, K., Tassone, F., et al. 2008. A girl with fragile x premutation from sperm donation. Am J Med Genet A 146(7):888-892.