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

Authors

  • W Chonchaiya,

    1. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health System, Sacramento, CA, USA
    2. Division of Growth and Development, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Bangkok, Thailand
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  • DV Nguyen,

    1. Division of Biostatistic, Department of Public Health Sciences, University of California, Davis, School of Medicine, Davis, CA, USA
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  • J Au,

    1. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health System, Sacramento, CA, USA
    2. Department of Pediatrics, University of California Davis Health System, Sacramento, CA, USA
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  • L Campos,

    1. Division of Biostatistic, Department of Public Health Sciences, University of California, Davis, School of Medicine, Davis, CA, USA
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  • EM Berry-Kravis,

    1. Departments of Pediatrics
    2. Neurological Sciences
    3. Biochemistry, Rush University Medical Center, Chicago, IL, USA
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  • K Lohse,

    1. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health System, Sacramento, CA, USA
    2. Department of Pediatrics, University of California Davis Health System, Sacramento, CA, USA
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  • Y Mu,

    1. Division of Biostatistic, Department of Public Health Sciences, University of California, Davis, School of Medicine, Davis, CA, USA
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  • A Utari,

    1. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health System, Sacramento, CA, USA
    2. Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia
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  • C Hervey,

    1. Departments of Pediatrics
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  • L Wang,

    1. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health System, Sacramento, CA, USA
    2. Department of Pediatrics, University of California Davis Health System, Sacramento, CA, USA
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  • P Sorensen,

    1. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health System, Sacramento, CA, USA
    2. Department of Pediatrics, University of California Davis Health System, Sacramento, CA, USA
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  • K Cook,

    1. Division of Biostatistic, Department of Public Health Sciences, University of California, Davis, School of Medicine, Davis, CA, USA
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  • L Gane,

    1. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health System, Sacramento, CA, USA
    2. Department of Pediatrics, University of California Davis Health System, Sacramento, CA, USA
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  • F Tassone,

    1. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health System, Sacramento, CA, USA
    2. Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA, USA
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  • RJ Hagerman

    Corresponding author
    1. Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health System, Sacramento, CA, USA
    2. Department of Pediatrics, University of California Davis Health System, Sacramento, CA, USA
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Randi J. Hagerman, MD, MIND Institute, UC Davis Health System, 2825 50th Street, Sacramento, CA 95817, USA.
Tel.: +1 916 703 0247;
Fax: +1 916 703 0240;
e-mail: randi.hagerman@ucdmc.ucdavis.edu

Abstract

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.

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