Neurodegeneration with Brain Iron Accumulation 2b (NBIA2B)

Neurodegeneration with Brain Iron Accumulation 2b, also known as karak syndrome, is related to neurodegeneration with brain iron accumulation 2a and dystonia, and has symptoms including cerebellar ataxia, muscle spasticity and seizures. An important gene associated with Neurodegeneration with Brain Iron Accumulation 2b is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Autophagy. Affiliated tissues include brain and caudate nucleus, and related phenotypes are seizure and spasticity