Fragile X-associated tremor/ataxia syndrome (FXTAS) affects individuals with 55-200 CGG repeats (premutation) in the 5'-untranslated region of the fragile X mental retardation 1 (FMR1) gene. FXTAS is a progressive neurodegenerative disorder associated with an action tremor, cerebellar ataxia memory and executive function deficits, autonomic dysfunction and neuropathy. Females with the fragile X premutation are often affected by fragile X-associated primary ovarian insufficiency (FXPOI), and may have other medical conditions such as fibromyalgia, depression, anxiety, and immune-mediated disorders like hypothyroidism. Here we present a case of a 54-year-old woman with tremor, ataxia, average memory skills, and executive function deficits who meets criteria for FXTAS. She also has anxiety, Major Depressive Disorder, fibromyalgia, chronic pain and was treated chronically with opioids and she overdosed on fentanyl leading to significant CNS dysfunction.
Keywords: FMR1 premutation; FXTAS; Fentanyl; fragile X syndrome; fragile X–associated tremor/ataxia syndrome.