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A Brief History of NBIA Gene Discovery
Susan J. Hayflick
J Mov Disord. 2023;16(2):133-137.   Published online April 26, 2023
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AbstractAbstract PDF
Neurodegenerative disorders associated with high basal ganglia iron are known by the overarching term of ‘NBIA’ disorders or ‘neurodegeneration with brain iron accumulation’. Discovery of their individual genetic bases was greatly enabled by the collection of DNA and clinical data in just a few centers. With each discovery, the remaining idiopathic disorders could be further stratified by common clinical, radiographic or pathological features to enable the next hunt. This iterative process, along with strong and open collaborations, enabled the discoveries of PANK2, PLA2G6, C19orf12, FA2H, WDR45, and COASY gene mutations as underlying PKAN, PLAN, MPAN, FAHN, BPAN, and CoPAN, respectively. The era of Mendelian disease gene discovery is largely behind us, but the history of these discoveries for the NBIA disorders has not yet been told. A brief history is offered here.


Citations to this article as recorded by  
  • Mitochondrial iron deficiency triggers cytosolic iron overload in PKAN hiPS-derived astrocytes
    Paolo Santambrogio, Anna Cozzi, Chiara Balestrucci, Maddalena Ripamonti, Valeria Berno, Eugenia Cammarota, Andrea Stefano Moro, Sonia Levi
    Cell Death & Disease.2024;[Epub]     CrossRef
  • COASY Protein-Associated Neurodegeneration: Report from India
    Rohan R. Mahale, Raviprakash Singh, Pavankumar Katragadda, Hansashree Padmanabha
    Annals of Indian Academy of Neurology.2023; 26(5): 834.     CrossRef

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