Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

@inproceedings{Schneider2013GeneticsAP,
  title={Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)},
  author={Susanne A. Schneider and Petr Du{\vs}ek and John Hardy and Ana Westenberger and Joseph Jankovic and Kailash P Bhatia},
  booktitle={Current neuropharmacology},
  year={2013}
}
Our understanding of the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) continues to grow considerably. In addition to the core syndromes of pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL). In parallel, the clinical and pathological spectrum has broadened and new age-dependent presentations are being described… CONTINUE READING

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