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Here, we report two unrelated patients with a new subtype of autosomal recessive cerebellar ataxia caused by biallelic, gene-disruptive mutations inGDAP2, a gene previously not implicated in disease. Both patients had onset of ataxia in the fourth decade. Other features included progressive spasticity and dementia. Neuropathological examination showed degenerative changes in the cerebellum, olive inferior, thalamus, substantia nigra, and pyramidal tracts, as well as tau pathology in the hippocampus and amygdala. To provide further evidence for a causative role ofGDAP2 mutations in autosomal recessive cerebellar ataxia pathophysiology, its orthologous gene was investigated in the fruit flyDrosophila melanogaster. Ubiquitous knockdown ofDrosophila Gdap2 resulted in shortened lifespan and motor behaviour anomalies such as righting defects, reduced and uncoordinated walking behaviour, and compromised flight. Gdap2 expression levels responded to stress treatments in control flies, and Gdap2 knockdown flies showed increased sensitivity to deleterious effects of stressors such as reactive oxygen species and nutrient deprivation. Thus,Gdap2 knockdown inDrosophila andGDAP2 loss-of-function mutations in humans lead to locomotor phenotypes, which may be mediated by altered responses to cellular stress.<\/jats:p>","DOI":"10.1093\/brain\/awy198","type":"journal-article","created":{"date-parts":[[2018,7,4]],"date-time":"2018-07-04T03:08:15Z","timestamp":1530673695000},"page":"2592-2604","source":"Crossref","is-referenced-by-count":26,"title":["GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia"],"prefix":"10.1093","volume":"141","author":[{"given":"Ilse","family":"Eidhof","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Baets","sequence":"first","affiliation":[{"name":"Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium"},{"name":"Institute Born-Bunge, University of Antwerp, Antwerp, Belgium"},{"name":"Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik-Jan","family":"Kamsteeg","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tine","family":"Deconinck","sequence":"first","affiliation":[{"name":"Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium"},{"name":"Institute Born-Bunge, University of Antwerp, Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"van Ninhuijs","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Jacques","family":"Martin","sequence":"first","affiliation":[{"name":"Institute Born-Bunge, University of Antwerp, Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sch\u00fcle","sequence":"first","affiliation":[{"name":"Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of T\u00fcbingen, T\u00fcbingen, Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE), T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Z\u00fcchner","sequence":"first","affiliation":[{"name":"Dr. John T. 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