Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.

@article{Tassone2012NeuropathologicalCA,
  title={Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.},
  author={Flora Tassone and Claudia M. Greco and Michael R Hunsaker and Andreea L. Seritan and Robert F. Berman and Louise W. Gane and S{\'e}bastien Jacquemont and Kirin Basuta and L Jin and Paul J. Hagerman and Randi J. Hagerman},
  journal={Genes, brain, and behavior},
  year={2012},
  volume={11 5},
  pages={577-85}
}
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia and frequently… CONTINUE READING