Mutational analysis of COQ2 in patients with MSA in Italy

被引：25

作者：

Ronchi, Dario ^{[1
]}

Di Biase, Ernesto ^{[1
]}

Franco, Giulia ^{[1
]}

Melzi, Valentina ^{[1
]}

Del Sorbo, Francesca ^{[2
]}

Elia, Antonio ^{[2
]}

Barzaghi, Chiara ^{[3
]}

Garavaglia, Barbara ^{[3
]}

Bergamini, Christian ^{[4
]}

Fato, Romana ^{[4
]}

Mora, Gabriele ^{[5
]}

Del Bo, Roberto ^{[1
]}

Fortunato, Francesco ^{[1
]}

Borellini, Linda ^{[1
]}

Trezzi, Ilaria ^{[1
]}

Compagnoni, Giacomo Monzio ^{[1
]}

Monfrini, Edoardo ^{[1
]}

Frattini, Emanuele ^{[1
]}

Bonato, Sara ^{[1
]}

Cogiamanian, Filippo ^{[6
]}

Ardolino, Gianluca ^{[6
]}

Priori, Alberto ^{[7
]}

Bresolin, Nereo ^{[1
]}

Corti, Stefania ^{[1
]}

Comi, Giacomo Pietro ^{[1
]}

Di Fonzo, Alessio ^{[1
]}

机构：

[1] Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Via Francesco Sforza 35, I-20122 Milan, Italy

[2] Neurol Inst C Besta IRCCS Fdn, Neurol Unit 1, Milan, Italy

[3] IRCCS Fdn Ist Neurol Carlo Besta, Mol Neurogenet Unit, Milan, Italy

[4] Univ Bologna, Dept Pharm & Biotecnol FaBiT, Bologna, Italy

[5] Fdn Salvatore Maugeri, Dept Neurol Rehabil, IRCCS, Ist Sci Milano, Milan, Italy

[6] IRCCS Fdn Ca Granda Osped Maggiore Policlin, UO Neurofisiopatol, Milan, Italy

[7] Univ Milan, Clin Neurol 3, Dipartimento Sci Salute, Osped Santi Paolo & Carlo, Milan, Italy

来源：

NEUROBIOLOGY OF AGING | 2016年 / 45卷

关键词：

MSA; COQ2; CoQ10; MULTIPLE-SYSTEM ATROPHY;

D O I：

10.1016/j.neurobiolaging.2016.05.022

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

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. (C) 2016 Elsevier Inc. All rights reserved.

引用

页数：2

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