Síndrome de temblor y ataxia asociado a frágil X (FXTAS): revisión de la literatura

Fragile X-associated tremor and ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder (1) of late onset that occurs among the premutation carriers of the FMR1 (Fragile X mental retardation 1) gene; which is also associated with Fragile X Syndrome (FXS). FXTAS is characterized by neurologic deficits that include progressive intention tremor, cerebellar ataxia, parkinsonism, peripheral neuropathy, cognitive deficits in memory and executive function, and autonomic dysfunction. FXTAS is emerging as an important diagnostic option for men with tremor, gait disorders and neurodegenerative symptoms. In general there is a subdiagnosis of this disease as it is a recently described syndrome and because of the lack of knowledge from health professionals; whom, due to the similarity of their clinical presentation with other neurological disorders, generally tend to confuse the diagnosis. In Colombia the prevalence of FXS or FXTAS has not been documented. However, a township in Valle del Cauca has a prevalence of more than 100 times the worldwide prevalence of FXS reported in the literature, which suggests that in Colombia there is underreporting of FXS and FXTAS. This review aims to disseminate the advances in knowledge of the clinical manifestations, the neurophysiopathology and treatment options for patients with FXTAS; and thus increase diagnosis and contribute to improving the quality of life of those affected and their families.