Article
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Annals of neurology - 1 Jun 2018
Seong Eunju, Insolera Ryan, Dulovic Marija, Kamsteeg Erik-Jan, Trinh Joanne, Brüggemann Norbert, Sandford Erin, Li Sheng, Ozel Ayse Bilge, Li Jun Z, Jewett Tamison, Kievit Anneke J A, Münchau Alexander, Shakkottai Vikram, Klein Christine, Collins Catherine A, Lohmann Katja, van de Warrenburg Bart P, Burmeister Margit
Abstract excerpt
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 paraplegia. To evaluate the role of VPS13D mutations, we evaluated a Drosophila knockout model and investigated...
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