Moreover, mutations in different E3 ubiquitin ligase genes have been identified in several neurodegenerative diseases, such as Sacsin in the autosomal recessive spastic ataxia of Charlevoix-Saguenay, Gigaxonin in Giant axonal neuropathy and Malin in Lafora disease [31-33]. Here, NHLRC1 is linked to giant axonal neuropathy.