Fragile X-Associated Tremor/Ataxia Syndrome: An Illustrative Case

Fragile X-associated tremor ataxia syndrome (FXTAS) is an uncommon neurodegenerative disorder caused by a premutation of the CGG repeat expansion within the 5' UTR of the fragile-X mental retardation (FMR1) gene. Neurological manifestations of FXTAS include action tremor, ataxia, parkinsonism, cognitive impairment, peripheral neuropathy, and autonomic dysfunction and typically occur in middle-aged men [1]. Here, we report a patient with FXTAS who presented typical clinical symptoms and structural and functional imaging features as an illustrative case report. KCI Citation Count: 1