title: Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation.
authors.affiliation: Department of Neurology, King's College Hospital NHS Foundation Trust, London, UK; Queen Elizabeth Hospital Woolwich, Lewisham & Greenwich NHS Trust, UK.
authors.forename: D
authors.initials: D
authors.lastname: Martino
authors.affiliation: IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Melzi
authors.affiliation: IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Franco
authors.affiliation: Department of Neuroradiology, King's College Hospital NHS Foundation Trust, London, UK.
authors.forename: N
authors.initials: N
authors.lastname: Kandasamy
authors.affiliation: IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Monfrini
authors.affiliation: IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address: alessio.difonzo@policlinico.mi.it.
authors.forename: A
authors.initials: A
authors.lastname: Di Fonzo
mesh_terms: D000328:Adult; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics*; D006180:Proton-Translocating ATPases / Q000235:genetics*; D013577:Syndrome
chemical_list: C514983:ATP13A2 protein, human; D006180:Proton-Translocating ATPases
keywords: ATP13A2; Dystonia; Genetics; Kufor-Rakeb; PARK9; Parkinson's disease