Beta-propeller protein-associated neurodegeneration: a case report and review of the literature

Clin Case Rep. 2018 Jan 4;6(2):353-362. doi: 10.1002/ccr3.1358. eCollection 2018 Feb.


Beta-propeller protein-associated neurodegeneration (BPAN) is a rare disorder, which is increasingly recognized thanks to next-generation sequencing. Due to a highly variable phenotype, patients may present to pediatrics, neurology, psychiatry, or internal medicine. It is therefore essential that physicians of different specialties are familiar with this severe and debilitating condition.

Keywords: Beta‐propeller protein‐associated neurodegeneration; WDR45; neurodegeneration with brain iron accumulation; neurodegeneration with iron accumulation.

Publication types

  • Case Reports