SPG7 and Parkinson disease: In 2018, Magri and colleagues described a unique phenotype characterized by early-onset optic atrophy, spastic ataxia, and levodopa-responsive parkinsonism associated with a de-novo heterozygous mutation of AFG3L2 (p.Arg468Cys) and a maternally inherited heterozygous intragenic deletion of SPG7. This complex phenotype could not be solely attributed to both genes individually [72].