Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome

W. Chonchaiya, D. V. Nguyen, J. Au, L. Campos, E. M. Berry-Kravis, K. Lohse, Y. Mu, A. Utari, C. Hervey, L. Wang, P. Sorensen, K. Cook, L. Gane, Flora Tassone, Randi J Hagerman

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)38-46
Number of pages9
JournalClinical Genetics
Volume78
Issue number1
DOIs
StatePublished - 2010

Fingerprint

Nuclear Family
Intellectual Disability
Parents
Fragile X Tremor Ataxia Syndrome
Dizziness
Tremor
Fathers
Genes
Psychiatry
Counseling
Sleep
Anxiety
Biomarkers
Alleles
Psychology

Keywords

  • Anxiety
  • Depression
  • Fragile X
  • FXTAS
  • POI

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. / Chonchaiya, W.; Nguyen, D. V.; Au, J.; Campos, L.; Berry-Kravis, E. M.; Lohse, K.; Mu, Y.; Utari, A.; Hervey, C.; Wang, L.; Sorensen, P.; Cook, K.; Gane, L.; Tassone, Flora; Hagerman, Randi J.

In: Clinical Genetics, Vol. 78, No. 1, 2010, p. 38-46.

Research output: Contribution to journalArticle

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 2010, 'Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome', Clinical Genetics, vol. 78, no. 1, pp. 38-46. https://doi.org/10.1111/j.1399-0004.2010.01448.x
Chonchaiya, W. ; Nguyen, D. V. ; Au, J. ; Campos, L. ; Berry-Kravis, E. M. ; Lohse, K. ; Mu, Y. ; Utari, A. ; Hervey, C. ; Wang, L. ; Sorensen, P. ; Cook, K. ; Gane, L. ; Tassone, Flora ; Hagerman, Randi J. / Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. In: Clinical Genetics. 2010 ; Vol. 78, No. 1. pp. 38-46.
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