DYNC1H1 and nervous system disorder: Since the first report of a mutation in DYNC1H1 was described in 2010 in relation to autosomal dominant SMALED1 [9], numerous articles have reported DYNC1H1 mutations in neurologic diseases [10, 11] such as axonal Charcot-Marie-Tooth disease type 2O (CMT2O, OMIM 614,228), malformation of cortical development (MCD, OMIM 614,563), and autosomal dominant mental retardation 13 (MRD13, OMIM 614,563).