One patient with AOA4 was diagnosed with cerebellar pilocytic astrocytoma at the age of 23 years22, and a second AOA4 patient developed a cerebellar hemangioblastoma resulting from a concurrent mutation in the von Hippel-Lindau gene23, but until now no cancer has been reported in an MCSZ patient. This evidence concerns the gene PNKP and cerebellar hemangioblastoma.