Neurodegeneration with Brain Iron Accumulation

Neurodegeneration with brain iron accumulation (NBIA) is an umbrella term for a group of clinically and etiologically heterogeneous disorders, all of which involve pathological iron deposition in the brain. The mineral deposition is usually most prominent in the deep gray matter nuclei of basal ganglia, but may additionally involve the midbrain structures like substantia nigra and the red nucleus. NBIAs are relentlessly progressive degenerative disorders that present with a spectrum of neurological involvement ranging from movement disorders to cognitive impairment, spasticity, ataxia, and others. Typically, neurological deficits exist across multiple domains in most patients and can range from progressive neurodevelopmental regression in infancy to milder forms of parkinsonism or dystonia in adulthood. Genetic defects have been linked to specific clinical manifestations, which aids in the diagnosis.