Neurodegeneration with brain iron accumulation

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurological disorders in which iron accumulates in the basal ganglia, resulting in progressive dystonia, Parkinsonism, spasticity, optic atrophy or retinal degeneration and neuropsychiatric abnormalities.

The group includes the following disorders:

• Pantothenate kinase-associated neurodegeneration (PKAN) also known as neurodegeneration with brain iron accumulation 1 (NBIA1)
• PLAN (PLA2G6-associated neurodegeneration)
• MPAN (Mitochondrial membrane protein-associated neurodegeneration)
• BPAN (Beta-propeller protein-associated neurodegeneration)
• FAHN (Fatty acid hydroxylase-associated neurodegeneration)
• Kufor–Rakeb syndrome
• Neuroferritinopathy
• Aceruloplasminemia
• Woodhouse–Sakati syndrome
• CoPAN (CoA synthase protein-associated neurodegeneration)
• Idiopathic NBIA
• Neurodegeneration with brain iron accumulation 2B (NBIA2B)
• Neurodegeneration with brain iron accumulation 3 (NBIA3)

References

• Neurodegeneration with Brain Iron Accumulation Information Page at National Institute of Neurological Disorders and Stroke