Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.

@article{Pretto2014ReducedEA,
  title={Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.},
  author={Dalyir I Pretto and Madhur Kumar and Zhengyu Cao and Christopher L. Cunningham and Blythe P. Durbin-Johnson and Lihong Qi and Robert F. Berman and Stephen Charles Noctor and Randi J. Hagerman and Isaac N Pessah and Flora Tassone},
  journal={Neurobiology of aging},
  year={2014},
  volume={35 5},
  pages={1189-97}
}
A premutation (PM) expansion (55-200 CGG) in the fragile X mental retardation gene 1 causes elevated messenger RNA and reduced fragile X mental retardation gene 1 protein. Young PM carriers can develop characteristic physical features and mild cognitive disabilities. In addition, individuals with PM, particularly male carriers, are at high risk to develop fragile X-associated tremor/ataxia syndrome (FXTAS) with aging. Human postmortem FXTAS brains show extensive white matter disease in the… CONTINUE READING

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