The macroscopic and microscopic findings in the patient. a, b The globus pallidus, putamen, caudate, substantia nigra, and periaqueductal gray matter demonstrated yellow-brown discoloration (arrowheads). c Grossly, the cerebellar cortex showed severe atrophy, and the granule cell layer was not visible. d The cerebellar granule cells were markedly depleted, and ectopic Purkinje cells (Pcs) were found (arrows). e The cingulate gyrus showed gliosis and numerous axonal spheroids (arrows). f, g The putamen also contained numerous axonal spheroids that were labeled by anti-phosphorylated neurofilament antibody. h In the cerebellum, anti-phosphorylated neurofilament immunostaining revealed dystrophic axons of the Pcs and highly reduced parallel fibers. i Many iron-positive granules were observed in the putaminal neuropil. j These granules were evident after Prussian blue staining. Bar = 50 μm. Hematoxylin and eosin staining (c-f, i), phosphorylated neurofilament immunohistochemistry (g, h), and Prussian-blue staining (j).