In comparison, the Norwegian Buhund cerebellar ataxia cases, which had two copies of the KCNIP4 variant but negligible cerebellar degeneration observed in the histopathological analysis [18], demonstrated almost complete loss of KCNIP4 protein expression in the western blot analysis, and dramatically reduced expression in the immunohistochemistry, indicating that in these individuals the loss of protein is caused by the mutation, not the cerebellar degeneration. The gene discussed is KCNIP4; the disease is aceruloplasminemia.