Article
Recessive mutations in VPS13D cause childhood onset movement disorders.
Annals of neurology - 1 Jun 2018
Gauthier Julie, Meijer Inge A, Lessel Davor, Mencacci Niccolò E, Krainc Dimitri, Hempel Maja, Tsiakas Konstantinos, Prokisch Holger, Rossignol Elsa, Helm Margaret H, Rodan Lance H, Karamchandani Jason, Carecchio Miryam, Lubbe Steven J, Telegrafi Aida, Henderson Lindsay B, Lorenzo Kerry, Wallace Stephanie E, Glass Ian A, Hamdan Fadi F, Michaud Jacques L, Rouleau Guy A, Campeau Philippe M
Abstract excerpt
VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including frameshift, missense, and partial duplication mutations with a novel complex, hyperkinetic neurological disorder. The clinical features include developmental delay, a childhood onset movement disorder (chorea,...
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