Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Objective To identify novel causes of recessive ataxias, including spinocerebellar ataxia with saccadic intrusions, spastic ataxias, and spastic paraplegia. Methods In an international collaboration, we independently performed exome sequencing in 7 families with recessive ataxia and/or spastic pa…