Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression.

•A case of SPG-11 in monozygotic twins is reported.•SPG-11 associated with a known frameshift mutation and a new splice site mutation•New mutation (p.Thr2068=) in the SPG 11 gene was shown to be pathogenic.•Heterogeneity of disability and imaging findings in the twins despite monocygosity•MR imaging results correspond to a more severe disease course in one of the twins.