Similarly, PGAP1 and C12ORF65 have been reported mutated in encephalomyopathies (Antonicka et al. 2010; Murakami et al. 2014), but they are also mutated in patients with complex HSP (Shimazaki et al. 2012; Tucci et al. 2013; Spiegel et al. 2014; Novarino et al. 2014). Here, PGAP1 is linked to hereditary spastic paraplegia.