Interestingly, alternative clinical phenotypes to MPAN have been reported for distinct C19ORF12 variants: the c.187G>C (p.A63P) mutation causes an AR form of spastic paraplegia with amyotrophy (SPG43) [130,131], the c.197-199del3 variant leads to MPAN phenotype aggravated with traits of juvenile amyotrophic lateral sclerosis (ALS) [132], and a clinical picture of Karak pallido-pyramidal syndrome has been described for the c.157G>A (p.G53R) mutation [133]. Here, C19orf12 is linked to neurodegeneration with brain iron accumulation 4.