C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

@article{Deschauer2012C19orf12MI,
  title={C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis},
  author={Marcus Deschauer and Charly Gaul and Curd Behrmann and Holger Prokisch and Stephan Zierz and Tobias B. Haack},
  journal={Journal of Neurology},
  year={2012},
  volume={259},
  pages={2434-2439}
}
Mutations in C19orf12 have been recently identified as the molecular genetic cause of a subtype of neurodegeneration with brain iron accumulation (NBIA). Given the mitochondrial localization of the gene product the new NBIA subtype was designated mitochondrial membrane protein-associated neurodegeneration. Frequent features in the patients described so far included extrapyramidal signs and pyramidal tract involvement. Here, we report three C19orf12-mutant patients from two families presenting… CONTINUE READING

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