Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS)

Authors

  • Alyssa A. Hamlin,

    1. Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California
    2. MIND Institute, University of California at Davis Medical Center, Sacramento, California
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  • Dina Sukharev,

    1. Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California
    2. MIND Institute, University of California at Davis Medical Center, Sacramento, California
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  • Luis Campos,

    1. Department of Public Health Sciences, University of California at Davis School of Medicine, Davis, California
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  • Yi Mu,

    1. Department of Public Health Sciences, University of California at Davis School of Medicine, Davis, California
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  • Flora Tassone,

    1. MIND Institute, University of California at Davis Medical Center, Sacramento, California
    2. Department of Biochemistry and Molecular Medicine, University of California at Davis School of Medicine, Davis, California
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  • David Hessl,

    1. MIND Institute, University of California at Davis Medical Center, Sacramento, California
    2. Department of Psychiatry, University of California at Davis School of Medicine, Davis, California
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  • Danh V. Nguyen,

    1. Department of Public Health Sciences, University of California at Davis School of Medicine, Davis, California
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  • Danuta Loesch,

    1. Department of Psychological Science, LaTrobe University, Melbourne, Australia
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  • Randi J. Hagerman

    Corresponding author
    1. Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California
    2. MIND Institute, University of California at Davis Medical Center, Sacramento, California
    • MIND Institute, Department of Pediatrics, University of California at Davis Medical Center, 2825 50th Street, Sacramento, CA 95817.
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  • Conflict of interest: Dr. Hagerman's work has been funded by the NIH. Other funding has been received for clinical trials from Seaside Therapeutics, Roche Pharmaceuticals, Novartis, Forest, and Curemark. Other authors declare no potential conflict of interest.

  • How to Cite this Article: Hamlin AA, Sukharev D, Campos L, Mu Y, Tassone F, Hessl D, Nguyen DV, Loesch D, Hagerman RJ. 2012. Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet Part A. 158A:1304–1309.

Abstract

Fragile X-associated tremor ataxia syndrome (FXTAS) is a late onset neurodegenerative disease that affects carriers of the fragile X premutation. This study seeks to assess hypertension risk and susceptibility in male premutation carriers with FXTAS. Although many symptoms and diagnostic criteria have been identified, hypertension risk has not been examined in this population. Data from 92 premutation carriers without FXTAS, 100 premutation carriers with FXTAS, and 186 controls was collected via patient medical interview. Age-adjusted logistic regression analysis was used to examine the relative odds of hypertension. We observed a significantly elevated odds ratio (OR) of hypertension relative to controls for premutation carriers with FXTAS (OR = 3.22, 95% CI: 1.72–6.04; P = 0.0003) among participants over 40-year old. The age-adjusted estimated odds of hypertension in premutation carriers without FXTAS in the over 40-year-old age group was higher compared to controls (OR = 1.61, 95% CI: 0.82–3.16), but was not statistically significant (P = 0.164). Chronic hypertension contributes to cardiovascular complications, dementia, and increased risk of stroke. Our results indicate that the risk of hypertension is significantly elevated in male premutation carriers with FXTAS compared with carriers without FXTAS and controls. Thus, evaluation of hypertension in patients diagnosed with FXTAS should be a routine part of the treatment monitoring and intervention for this disease. © 2012 Wiley Periodicals, Inc.

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