The fragile x-associated tremor and ataxia syndrome (FXTAS).
FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.
Leonardo Pires
LP
Capelli
Márcia Rúbia Rodrigues
MR
Gonçalves
Claudia C
CC
Leite
Egberto R
ER
Barbosa
Ricardo
R
Nitrini
Angela M
AM
Vianna-Morgante
D000818:Animals; D001259:Ataxia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D014202:Tremor / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human