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

Alyssa A. Hamlin, Dina Sukharev, Luis Campos, Yi Mu, Flora Tassone, David R Hessl, Danh V. Nguyen, Danuta Loesch, Randi J Hagerman

Research output: Contribution to journalArticle

37 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1304-1309
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number6
DOIs
StatePublished - Jun 2012

Keywords

  • Autonomic disease
  • FMR1 premutation
  • Fragile X-associated tremor/ataxia syndrome
  • Hypertension

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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