De Novo and Dominantly Inherited <scp><i>SPTAN1</i></scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Abstract

We show that SPTAN1 is a relevant candidate gene for ataxia and spastic paraplegia. We suggest that for the mutations identified in this study, disruption of the interlinking of spectrin helices could be a key feature of the pathomechanism. © 2022 International Parkinson and Movement Disorder Society.