Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome
Article first published online: 14 APR 2010
© 2010 John Wiley & Sons A/S
Volume 78, Issue 1, pages 38–46, July 2010
How to Cite
Chonchaiya, W., Nguyen, D., Au, J., Campos, L., Berry-Kravis, E., Lohse, K., Mu, Y., Utari, A., Hervey, C., Wang, L., Sorensen, P., Cook, K., Gane, L., Tassone, F. and Hagerman, R. (2010), Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clinical Genetics, 78: 38–46. doi: 10.1111/j.1399-0004.2010.01448.x
- Issue published online: 7 JUN 2010
- Article first published online: 14 APR 2010
- Received 14 November 2010, revised and accepted for publication 31 March 2010
- fragile X;
Chonchaiya W, Nguyen DV, Au J, Campos L, Berry-Kravis EM, Lohse K, Mu Y, Utari A, Hervey C, Wang L, Sorensen P, Cook K, Gane L, Tassone F, Hagerman RJ. Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.
Women with the fragile X mental retardation 1 (FMR1) premutation often have concerns about neurological and medical problems, as they become older and if their fathers experience fragile X-associated tremor/ataxia syndrome (FXTAS). We therefore determined the prevalence of these problems in 110 daughters of men with FXTAS [mean age of 44.8 years (SD 8.2)]. We compared them with 43 female controls with normal FMR1 alleles [mean age of 43.8 years (SD 8.1)] and 36 premutation carrier daughters of parents with the premutation, but without FXTAS [mean age of 43.5 years (SD 7.7)]. Overall, daughters of men with FXTAS have a higher prevalence of neurological symptoms including tremor, balance problems, memory problems, and dizziness, menopausal symptoms, and psychiatric involvement including sleep problems and anxiety when compared with non-carrier female controls. Reported balance problems and menopausal symptoms were significantly higher in daughters of men with FXTAS than in carrier daughters of parents without FXTAS, suggesting the potential influence of background gene effects. Therefore, neurological, psychological and gynecological surveillance should be warranted to better provide appropriate counseling, management and care for daughters of men with FXTAS. Biological markers of additional gene effects that predispose individuals with the premutation to FXTAS need to be developed.