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Beta-Propeller Protein-Associated Neurodegeneration (BPAN)

  • Background:
    • BPAN is a type of neurodegeneration with brain iron accumulation (NBIA).
    • It demonstrates an X-linked dominant inheritance pattern and involves a mutation in the WDR45 gene that arises de novo.
  • Clinical Presentation:
    • The clinical course can be divided into 2 phases. The first phase is marked by global developmental delay and seizures during early childhood.
    • The course is dormant until adulthood, when the patient starts to develop rapidly progressing parkinsonian symptoms.
  • Key Diagnostic Features:
    • Once the parkinsonian symptoms appear, brain MRI shows hypointensity in the region of substantia nigra (SN) and globus pallidus (GP) on T2-weighted and susceptibility sequences as a result of iron deposition.
    • T1WI demonstrates the unique finding of a hyperintense halo surrounding a hypointense linear streak, formed as a result of neuromelanin release from the degenerating neurons.
  • Differential Diagnoses:
    • Similar clinical findings with iron accumulation in SN and GP can also be seen in other types of NBIA:
      • Pantothenate kinase-associated neurodegeneration (PKAN): characteristic "eye-of-the-tiger" sign
      • PLA2G6-associated neurodegeneration (PLAN)
      • Mitochondrial membrane protein-associated neurodegeneration (MPAN)
      • Neuroferritinopathy
  • Treatment:
    • Dopamine agonists
    • Levodopa
    • Deep brain stimulation
    • Symptomatic treatment for dystonia and seizures
June 15, 2017

A 33-year-old woman with a history of global developmental delay and generalized seizures in childhood presented at the age of 21 with parkinsonian symptoms, including unsteady gait, frequent falls, and rigidity in all extremities, which steadily progressed over 4 years to leave her wheelchair-bound.

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