MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome

@article{Scaglione2007MRIAS,
  title={MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome},
  author={PhD C. Scaglione and Andrea Ginestroni and Alessandra Vella and Maria Teresa Dotti and Riccardo Della Nave and Giovanni Rizzo and Maria Teresa R. De Cristofaro and Nicola De Stefano and Silvia Piacentini and Paolo Emilio Martinelli and PhD Prof. M. Mascalchi},
  journal={Journal of Neurology},
  year={2007},
  volume={255},
  pages={144-146}
}
Sirs: Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inclusion disorder with an estimated prevalence among men > 50 years of age up to 1 in 3000 in the general population [16]. The neurologic phenotype of FXTAS is variable and includes intention tremor, ataxia, parkinsonism, and cognitive decline [7–10]. We report evidence from MRI and SPECT that the fragile X premutation determines a subcortical gray matter degeneration involving the midbrain and striatum associated with… CONTINUE READING

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