At present there are two amino acid variations in HSP60 known for which a clear disease-association has been established: the HSP60-p.Val98Ile mutation associated with a dominantly inherited form of HSP (SPG13; OMIM #605280; Hansen et al., 2002) and the HSP60-p.Asp29Gly mutation causing a recessively inherited white matter disease called MitCHAP60 disease (OMIM #612233; Magen et al., 2008). This evidence concerns the gene HSPD1 and hypomyelinating leukodystrophy 4.