Lastly, it is important to note that mutations implicated in complicated SPG-30, such as T99M and E253K, are causal in PEHO syndrome suggesting a similar etiology between the disorders (Esmaeeli-Nieh et al., 2015; Lee J.R. et al., 2015; Samanta and Gokden, 2019). Here, KIF1A is linked to PEHO syndrome.