title: Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS).
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.
authors.affiliation: Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA.
authors.forename: Alyssa A
authors.initials: AA
authors.lastname: Hamlin
authors.forename: Dina
authors.initials: D
authors.lastname: Sukharev
authors.forename: Luis
authors.initials: L
authors.lastname: Campos
authors.forename: Yi
authors.initials: Y
authors.lastname: Mu
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: David
authors.initials: D
authors.lastname: Hessl
authors.forename: Danh V
authors.initials: DV
authors.lastname: Nguyen
authors.forename: Danuta
authors.initials: D
authors.lastname: Loesch
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001259:Ataxia / Q000150:complications; D001794:Blood Pressure; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000150:complications*; D006579:Heterozygote; D006801:Humans; D006973:Hypertension / Q000150:complications* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014202:Tremor / Q000150:complications; D055815:Young Adult
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human