Heterogeneity of Coenzyme Q10 Deficiency Patient Study and Literature Review

被引：156

作者：

Emmanuele, Valentina ^{[3
]}

Lopez, Luis C. ^{[4
]}

Berardo, Andres

Naini, Ali ^{[2
]}

Tadesse, Saba

Wen, Bing

D'Agostino, Erin

Solomon, Martha

DiMauro, Salvatore

Quinzii, Catarina

Hirano, Michio ^{[1
]}

机构：

[1] Columbia Univ, Dept Neurol, H Houston Merritt Clin Res Ctr, Med Ctr, New York, NY 10032 USA

[2] Columbia Univ, Med Ctr, Dept Pathol, New York, NY 10032 USA

[3] Univ Genoa, Dept Human Genet, PhD Program, Genoa, Italy

[4] Univ Granada, Inst Biotechnol, Biomed Res Ctr CIBM, Lab 139, Granada, Spain

来源：

ARCHIVES OF NEUROLOGY | 2012年 / 69卷 / 08期

基金：

美国国家卫生研究院;

关键词：

CEREBELLAR-ATAXIA; MITOCHONDRIAL ENCEPHALOMYOPATHY; UBIQUINONE DEFICIENCY; MYOPATHIC FORM; LEIGH-SYNDROME; MUTATIONS; NEPHROPATHY; PHENOTYPE; SYNTHASE;

D O I：

10.1001/archneurol.2012.206

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Coenzyme Q 10 (CoQ 10) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. Primary CoQ 10 deficiency is due to defects in CoQ 10 biosynthesis, while secondary forms are due to other causes. A review of 149 cases, including our cohort of 76 patients, confirms that CoQ 10 deficiency is a clinically and genetically heterogeneous syndrome that mainly begins in childhood and predominantly manifests as cerebellar ataxia. Coenzyme Q 10 measurement in muscle is the gold standard for diagnosis. Identification of CoQ 10 deficiency is important because the condition frequently responds to treatment. Causative mutations have been identified in a small proportion of patients. ©2012 American Medical Association. All rights reserved.

引用

页码：978 / 983

页数：6

共 36 条

[1] Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency [J].

Aeby, A. ;

Sznajer, Y. ;

Cave, H. ;

Rebuffat, E. ;

Van Coster, R. ;

Rigal, O. ;

Van Bogaert, P. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (05) :827-827

[2] Cerebellar ataxia with coenzyme Q10 deficiency:: Diagnosis and follow-up after coenzyme Q10 supplementation [J].

Artuch, R ;

Brea-Calvo, G ;

Briones, P ;

Aracil, A ;

Galván, M ;

Espinós, C ;

Corral, J ;

Volpini, V ;

Ribes, A ;

Andreu, AL ;

Palau, F ;

Sánchez-Alcázar, JA ;

Navas, P ;

Pineda, M .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2006, 246 (1-2) :153-158

[3] Progression despite replacement of a myopathic form of coenzyme Q10 defect [J].

Auré, K ;

Benoist, JF ;

de Baulny, HO ;

Romero, NB ;

Rigal, O ;

Lombès, A .

NEUROLOGY, 2004, 63 (04) :727-729

[4] A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency [J].

Boitier, E ;

Degoul, F ;

Desguerre, I ;

Charpentier, C ;

François, D ;

Ponsot, G ;

Diry, M ;

Rustin, P ;

Marsac, C .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1998, 156 (01) :41-46

[5] Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients [J].

Castellotti, Barbara ;

Mariotti, Caterina ;

Rimoldi, Marco ;

Fancellu, Roberto ;

Plumari, Massimo ;

Caimi, Sara ;

Uziel, Graziella ;

Nardocci, Nardo ;

Moroni, Isabella ;

Zorzi, Giovanna ;

Pareyson, Davide ;

Di Bella, Daniela ;

Di Donato, Stefano ;

Taroni, Franco ;

Gellera, Cinzia .

NEUROGENETICS, 2011, 12 (03) :193-201

[6] Ataxia with oculomotor apraxia type 1 (AOA1): Clinical and neuropsychological features in 2 new patients and differential diagnosis [J].

D'Arrigo, Stefano ;

Riva, Daria ;

Bulgheroni, Sara ;

Chiapparini, Luisa ;

Castellotti, Barbara ;

Gellera, Cinzia ;

Pantaleoni, Chiara .

JOURNAL OF CHILD NEUROLOGY, 2008, 23 (08) :895-900

[7] Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency [J].

Di Giovanni, S ;

Mirabella, M ;

Spinazzola, A ;

Crociani, P ;

Silvestri, G ;

Broccolini, A ;

Tonali, P ;

Di Mauro, S ;

Servidei, S .

NEUROLOGY, 2001, 57 (03) :515-518

[8] COQ2 nephropathy:: A newly described inherited mitochondriopathy with primary renal involvement [J].

Diomedi-Camassei, Francesca ;

Di Giandomenico, Silvia ;

Santorelli, Filippo M. ;

Caridi, Gianluca ;

Piemonte, Fiorella ;

Montini, Giovanni ;

Ghiggeri, Gian Marco ;

Murer, Luisa ;

Barisoni, Laura ;

Pastore, Anna ;

Muda, Andrea Onetti ;

Valente, Maria Luisa ;

Bertini, Enrico ;

Emma, Francesco .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2007, 18 (10) :2773-2780

[9] A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease [J].

Duncan, Andrew J. ;

Bitner-Glindzicz, Maria ;

Meunier, Brigitte ;

Costello, Harry ;

Hargreaves, Iain P. ;

Lopez, Luis C. ;

Hirano, Michio ;

Quinzii, Catarina M. ;

Sadowski, Michael I. ;

Hardy, John ;

Singleton, Andrew ;

Clayton, Peter T. ;

Rahman, Shamima .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (05) :558-566

[10] The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene [J].

Gempel, Klaus ;

Topaloglu, Haluk ;

Talim, Beril ;

Schneiderat, Peter ;

Schoser, Benedikt G. H. ;

Hans, Volkmar H. ;

Palmafy, Beatrix ;

Kale, Gulsev ;

Tokatli, Aysegul ;

Quinzii, Catarina ;

Hirano, Michio ;

Naini, Ali ;

DiMauro, Salvatore ;

Prokisch, Holger ;

Lochmueller, Hanns ;

Horvath, Rita .

BRAIN, 2007, 130 :2037-2044

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