This observation is in contrast with the rather widespread distribution of neuroaxonal swellings that is present in NBIA type 2 with PLA2G6 mutations, in which brain iron accumulation is rather variable and axonal swellings are frequent in the globus pallidus, brainstem nuclei as well as spinal cord and cerebellar degeneration may also be a prominent feature [26],[27]. Here, PLA2G6 is linked to cerebellar degeneration.