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The Epidemiology of FXTAS

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FXTAS, FXPOI, and Other Premutation Disorders

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Abstract

Recent epidemiological studies in the United States estimate the prevalence of the FMR1 premutation as ranging from 1/148 to 1/209 in women and from 1/290 to 1/468 in men, with greater variability in prevalence reported in studies internationally. Population studies investigating the prevalence of FXTAS in the general population have not been conducted due to the rarity of the disorder. The prevalence of FXTAS is estimated to be 1/4000 in men over the age of 55, due to age-dependent penetrance. The prevalence in women is thought to be much lower, at approximately 1/7800, because of the protection of the second X chromosome. Many screening studies have been conducted in movement disorder populations, attempting to ascertain undiagnosed FXTAS cases and premutation expansions. These studies have yielded low rates, with a rate of 1 % in cerebellar ataxia patients, <1 % in parkinsonian disorders, such as Parkinson disease and multiple system atrophy, and 0 % in essential tremor. Screening studies vary widely in the type of patients included, both in ethnicity and in gender. Wider inclusion criteria for screening could increase the rates of ascertainment of both FXTAS and premutation expansions in future studies.

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Authors and Affiliations

  1. Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA

    Deborah A. Hall

  2. Waisman Center, University of Wisconsin-Madison, Madison, WI, USA

    Marsha Mailick

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  1. Deborah A. Hall
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  2. Marsha Mailick
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Correspondence to Deborah A. Hall .

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Editors and Affiliations

  1. Department of Biochemistry and Molecular Medicine, University of California, Davis, California, USA

    Flora Tassone

  2. Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA

    Deborah A. Hall

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Hall, D.A., Mailick, M. (2016). The Epidemiology of FXTAS. In: Tassone, F., Hall, D. (eds) FXTAS, FXPOI, and Other Premutation Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-33898-9_2

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