Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors.

@article{Kaski2011InheritedPD,
  title={Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors.},
  author={Diego N Kaski and Catherine Pennington and J Beck and Mark Poulter and James Uphill and Matthew T. Bishop and Jaqueline M Linehan and Catherine O'Malley and Jonathan D F Wadsworth and Susan Joiner and Richard S. G. Knight and James W Ironside and Sebastian Brandner and John Collinge and Simon Mead},
  journal={Brain : a journal of neurology},
  year={2011},
  volume={134 Pt 6},
  pages={1829-38}
}
Genetic factors are implicated in the aetiology of sporadic late-onset neurodegenerative diseases. Whether these genetic variants are predominantly common or rare, and how multiple genetic factors interact with each other to cause disease is poorly understood. Inherited prion diseases are highly heterogeneous and may be clinically mistaken for sporadic Creutzfeldt-Jakob disease because of a negative family history. Here we report our investigation of patients from the UK with four extra… CONTINUE READING

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