Hypertension in FMR1 Premutation Males With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Details

• Alternative Title:
  Am J Med Genet A
• Personal Author:
  Hamlin, Alyssa A. ; Sukharev, Dina ; Campos, Luis ; Mu, Yi ; Tassone, Flora ; Hessl, David ; Nguyen, Danh V. ; Loesch, Danuta ; Hagerman, Randi J.
• Description:
  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.
• Subjects:
  Adolescent Adult Aged Aged, 80 And Over Age Of Onset Ataxia Blood Pressure Fragile X Mental Retardation Protein Fragile X Syndrome Heterozygote Humans Hypertension Male Middle Aged Mutation Tremor Young Adult

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• Source:
  Am J Med Genet A. 2012; 0(6):1304-1309.
• Pubmed ID:
  22528549
• Pubmed Central ID:
  PMC3983689
• Document Type:
  Journal Article
• Funding:
  90DD05969/DD/NCBDD CDC HHS/United States ; AG032115/AG/NIA NIH HHS/United States ; AG032119/AG/NIA NIH HHS/United States ; DA024854/DA/NIDA NIH HHS/United States ; DE019583/DE/NIDCR NIH HHS/United States ; HD02274/HD/NICHD NIH HHS/United States ; HD036071/HD/NICHD NIH HHS/United States ; MH078041/MH/NIMH NIH HHS/United States ; R01 MH078041/MH/NIMH NIH HHS/United States ; UL1 RR024146/RR/NCRR NIH HHS/United States
• Issue:
  6
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:5a5ad9f17146dcec71ff63f1da114db262b5d96a7901f53accc8b8410c720df3
• Download URL:
  https://stacks.cdc.gov/view/cdc/33678/cdc_33678_DS1.pdf
• File Type:
  [PDF - 84.07 KB ]