Neuroferritinopathy in a French family with late onset dominant dystonia.

@article{Chinnery2003NeuroferritinopathyIA,
  title={Neuroferritinopathy in a French family with late onset dominant dystonia.},
  author={Patrick F. Chinnery and A. R. Curtis and Constanze Fey and Alan Coulthard and Douglas Ewan Crompton and Anne Lombes and John Burn},
  journal={Journal of medical genetics},
  year={2003},
  volume={40 5},
  pages={e69}
}
We recently described a dominantly inherited movement disorder in a large family from Cumbria in the north west of England resulting from an adenine insertion at position 460-461 in the ferritin light polypeptide gene (FTL). The disease presented between the ages of 38 and 58 years with chorea in some subjects, focal dystonia in other subjects, and an akinetic rigid parkinsonian syndrome in others. Brain imaging showed basal ganglia cavitation that was confirmed at necropsy. Neuronal loss was… CONTINUE READING

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