Flies used in international effort to identify mutations associated with a recessive form of ataxia or spastic paraplegia

Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann Neurol. 2018 Jun;83(6):1075-1088. PubMed PMID: 29604224; PubMed Central PMCID: PMC6105379.

From the abstract: "To identify novel causes of recessive ataxias, including spinocerebellar ataxia with saccadic intrusions, spastic ataxias, and spastic paraplegia. ... 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 mitochondrial function in patient-derived fibroblast cultures. ... 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."

See also:

Fogel BL. Collaborative science unites researchers and a novel spastic ataxia gene. Ann Neurol. 2018 Jun;83(6):1072-1074. PubMed PMID: 29908061; PubMed Central PMCID: PMC6105536.