The fragile X premutation presenting as postprandial hypotension

Abstract

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder consisting of progressive intention tremor and cerebellar ataxia recently described in men with the premutation (55 to 200 CGG repeats) in the promoter region of the fragile X mental retardation 1 ( FMR1 ) gene1 and with grandchildren with fragile X syndrome (FXS).2 We describe here a patient with postprandial hypotension and intention tremor carrying an FMR1 premutation allele and without a family history for FXS. A 73-year-old man was referred to our clinic for episodes of blurred vision, dizziness, and weakness appearing after meals and associated with low blood pressure (BP) values. These episodes began 1 year before our visit, but the patient also had bilateral hand tremor with onset at age 71 years, mostly pronounced with posture and action. His family history was unremarkable for peculiar neurologic disorders: he had two healthy sons aged 42 and 39 years and two healthy grandchildren. Moreover, he had only two sisters: one died at age 38 years …