The Unstable Repeats—Three Evolving Faces of Neurological Disease

@article{Nelson2013TheUR,
  title={The Unstable Repeats—Three Evolving Faces of Neurological Disease},
  author={David L. G. Nelson and Harry T. Orr and Stephen T Warren},
  journal={Neuron},
  year={2013},
  volume={77},
  pages={825-843}
}
Disorders characterized by expansion of an unstable nucleotide repeat account for a number of inherited neurological diseases. Here, we review examples of unstable repeat disorders that nicely illustrate three of the major pathogenic mechanisms associated with these diseases: loss of function typically by disrupting transcription of the mutated gene, RNA toxic gain of function, and protein toxic gain of function. In addition to providing insight into the mechanisms underlying these devastating… CONTINUE READING

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