Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian, Henry H. Houlden, James Anderson, Nathalie Boddaert, Lynn Sanford, Sami I. Harik, Vasuki H. Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark Tarnopolsky, Steven Skinner, Kenton R. Holden, Steven Frucht, Era Hanspal, Connie Schrander-StumpelCyril Mignot, Delphine Heron, Dawn E. Saunders, Margaret Kaminska, Jean-Pierre Lin, Karine Lascelles, Stephan M. Cuno, Esther Meyer, Barbara Garavaglia, Kailash Bhatia, Rajith de Silva, Sarah Crisp, Peter Lunt, Martyn Carey, John Hardy, Thomas Meitinger, Holger Prokisch, Penelope Hogarth

Research output: Contribution to journalArticleAcademicpeer-review

56 Citations (Scopus)
Original languageEnglish
Pages (from-to)1708-1717
JournalBrain
Volume136
Issue number6
DOIs
Publication statusPublished - Jun 2013

Keywords

  • iron
  • NBIA
  • autophagy
  • basal ganglia
  • Rett syndrome

Cite this

Hayflick, S. J., Kruer, M. C., Gregory, A., Haack, T. B., Kurian, M. A., Houlden, H. H., Anderson, J., Boddaert, N., Sanford, L., Harik, S. I., Dandu, V. H., Nardocci, N., Zorzi, G., Dunaway, T., Tarnopolsky, M., Skinner, S., Holden, K. R., Frucht, S., Hanspal, E., ... Hogarth, P. (2013). Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain, 136(6), 1708-1717. https://doi.org/10.1093/brain/awt095