title: Mutational analysis of COQ2 in patients with MSA in Italy.
abstract: COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an MSA-C patient. Cosegregation analysis and the evaluation of CoQ10 content in muscle and fibroblasts did not support the pathogenic role of this variant.
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: Dario
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: Ernesto
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: Giulia
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: Valentina
authors.initials: V
authors.lastname: Melzi
authors.affiliation: Neurology Unit I, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Del Sorbo
authors.affiliation: Neurology Unit I, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Elia
authors.affiliation: Molecular Neurogenetics Unit, IRCCS Foundation Istituto Neurologico Carlo Besta, Milano, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Barzaghi
authors.affiliation: Molecular Neurogenetics Unit, IRCCS Foundation Istituto Neurologico Carlo Besta, Milano, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Garavaglia
authors.affiliation: Department of Pharmacy and Biotecnology (FaBiT), University of Bologna, Bologna, Italy.
authors.forename: Christian
authors.initials: C
authors.lastname: Bergamini
authors.affiliation: Department of Pharmacy and Biotecnology (FaBiT), University of Bologna, Bologna, Italy.
authors.forename: Romana
authors.initials: R
authors.lastname: Fato
authors.affiliation: Department of Neurological Rehabilitation, Fondazione Salvatore Maugeri, IRCCS, Istituto Scientifico di Milano, Milan, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Mora
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: Roberto
authors.initials: R
authors.lastname: Del Bo
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: Francesco
authors.initials: F
authors.lastname: Fortunato
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: Linda
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: Ilaria
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: Giacomo Monzio
authors.initials: GM
authors.lastname: Compagnoni
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: Edoardo
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: Emanuele
authors.initials: E
authors.lastname: Frattini
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: Sara
authors.initials: S
authors.lastname: Bonato
authors.affiliation: U.O. Neurofisiopatologia, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Cogiamanian
authors.affiliation: U.O. Neurofisiopatologia, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Ardolino
authors.affiliation: Clinica Neurologica III Università degli Studi di Milano, Dipartimento di Scienze della Salute, Ospedale Santi Paolo e Carlo, Milano, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Priori
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: Nereo
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: Stefania
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: Giacomo Pietro
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: Alessio
authors.initials: A
authors.lastname: Di Fonzo
mesh_terms: D000328:Adult; D000368:Aged; D019883:Alkyl and Aryl Transferases / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: D019883:Alkyl and Aryl Transferases; C021386:4-hydroxybenzoate polyprenyltransferase
keywords: COQ2; CoQ10; MSA