title: A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.
authors.affiliation: Neurological Department, Santa Chiara Hospital, Trento, Italy.
authors.forename: M C
authors.initials: MC
authors.lastname: Malaguti
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: Centro di Riabilitazione Neurocognitiva (CeRiN), Center for Mind/Brain Sciences (CIMEC) University of Trento, Trento, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Di Giacopo
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.
authors.forename: E
authors.initials: E
authors.lastname: Di Biase
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: IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Borellini
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: I
authors.initials: I
authors.lastname: Trezzi
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: Monzio Compagnoni
authors.affiliation: Centro di Riabilitazione Neurocognitiva (CeRiN), Center for Mind/Brain Sciences (CIMEC), University of Trento, Trento, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Fortis
authors.affiliation: SS Neuroradiology, Department of Radiology, Santa Chiara Hospital, Trento, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Feraco
authors.affiliation: Neurological Department, Santa Chiara Hospital, Trento, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Orrico
authors.affiliation: Neurological Department, Santa Chiara Hospital, Trento, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Cucurachi
authors.affiliation: Nuclear Medicine Department, Santa Chiara Hospital, Trento, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Donner
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: M
authors.initials: M
authors.lastname: Rizzuti
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: D
authors.initials: D
authors.lastname: Ronchi
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: S
authors.initials: S
authors.lastname: Bonato
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: N
authors.initials: N
authors.lastname: Bresolin
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: S
authors.initials: S
authors.lastname: Corti
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 P
authors.initials: GP
authors.lastname: Comi
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; D003342:Corpus Striatum / Q000473:pathology; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics*; D013378:Substantia Nigra / Q000473:pathology
chemical_list: D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human
keywords: Dystonia; NBIA; PLA2G6; PLAN; Parkinson's disease genetics; Parkinsonism