Neurodegeneration with Brain Iron Accumulation 2 (NBIA2B) is one of the PLA2G6-associated neurodegeneration (PLAN), which refers to the overlapping phenotypes that result from PLA2G6 mutations. NBIA2B is characterized by cerebellar and cerebral atrophy, increased iron deposition in the basal ganglia and an 'Eye of the tiger' sign on MRI scans. Histological investigations reveal axonal swellings or spheroids, Lewy bodies in the substantia nigra and throughout the brain as well as neurofibrillary tangles. Patients exhibit symptoms such as ataxia, dysmetria, chorea of limbs, dystonia, dysarthria, bradykinesia, hypertonia, dysphagia, spasticity, seizures, speech delay and cognitive decline. The condition also causes optic atrophy and nystagmus. Affected individuals may suffer from behavioral issues such as hyperactivity, emotional lability, impulsivity, poor attention span, and diminished social interaction. Atypical neuroaxonal dystrophy has a later onset compared to Infantile neuroaxonal dystrophy (INAD), usually affecting children between the ages of 4 to 6. However, in some cases, the condition only manifests in the teenage years. The disorder is also more slowly progressive than INAD and has a variable phenotype. It does not appear to have a racial or gender bias.
Diagnosis is made based on clinical features and brain imaging studies as well as by genetic analysis. Treatment is symptomatic and supportive. Patients benefit from pharmacological therapy such as anti-seizure medication and baclofen for dystonia, ambulatory aids, physical therapy and speech therapy.