Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Eunju SeongRyan InsoleraMarija DulovicErik-Jan KamsteegJoanne TrinhNorbert BrüggemannErin SandfordSheng LiAyse Bilge OzelJun Z LiTamison JewettAnneke J A KievitAlexander MünchauVikram ShakkottaiChristine KleinCatherine A CollinsKatja LohmannBart P van de WarrenburgMargit BurmeisterPublished in: Annals of neurology (2018)
Our study demonstrates that compound heterozygous mutations in VPS13D cause movement disorders along the ataxia-spasticity spectrum, making VPS13D the fourth VPS13 paralog involved in neurological disorders. Ann Neurol 2018.