Spastic Paraplegia, Optic Atrophy, and Neuropathy (SPOAN)

Spastic Paraplegia, Optic Atrophy, and Neuropathy, also known as spoan syndrome, is related to paraplegia and spastic paraplegia 20, autosomal recessive. An important gene associated with Spastic Paraplegia, Optic Atrophy, and Neuropathy is KLC2 (Kinesin Light Chain 2), and among its related pathways/superpathways is RHO GTPases activate KTN1. Affiliated tissues include eye, and related phenotypes are optic atrophy and multiple joint contractures