Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)

European Journal of Paediatric Neurology

Volumn 17, Issue 6, 2013, Pages 625-630

  Scalais, Emmanuel ^a   Chafai, Ronit ^a   Van Coster, Rudy ^d   Bindl, Lutz ^a   Nuttin, Christian ^a   Panagiotaraki, Chryssa ^a   Seneca, Sara ^b,c   Lissens, Willy ^b,c   Ribes, Antonia ^e   Geers, Caroline ^b   Smet, Joel ^d   De Meirleir, Linda ^b,c  

^a CENTRE HOSPITALIER DE LUXEMBOURG   (Luxembourg)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e HOSPITAL CLÍNIC   (Spain)

Author keywords

CoQ2 (encoding para hydroxybenzoate polyprenyl transferase); Early myoclonic epilepsy; Hypertrophic cardiomyopathy; Nephrotic syndrome; Primary CoQ10 deficiency

Indexed keywords

PARA HYDROXYBENZOATE POLYPRENYLTRANSFERASE; SUCCINATE DEHYDROGENASE; UBIDECARENONE; UBIQUINONE; UNCLASSIFIED DRUG;

ARTICLE; BRAIN CORTEX; CASE REPORT; DEATH; DIET SUPPLEMENTATION; DISEASE COURSE; ENZYME DEFICIENCY; FIBROBLAST CULTURE; FOCAL GLOMERULOSCLEROSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFANT; KIDNEY; KIDNEY BIOPSY; MALE; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; NEPHROTIC SYNDROME; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIMARY COENZYME Q10 DEFICIENCY; PRIORITY JOURNAL; PROTEINURIA; PUTAMEN; SEIZURE; SKELETAL MUSCLE; SKIN FIBROBLAST;

COQ2 (ENCODING PARA-HYDROXYBENZOATE-POLYPRENYL TRANSFERASE); EARLY MYOCLONIC EPILEPSY; HYPERTROPHIC CARDIOMYOPATHY; NEPHROTIC SYNDROME; PRIMARY COQ10 DEFICIENCY;

ALKYL AND ARYL TRANSFERASES; ATAXIA; CARDIOMYOPATHY, HYPERTROPHIC; DIFFUSION MAGNETIC RESONANCE IMAGING; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; GENETIC TESTING; HUMANS; INFANT; KIDNEY; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MITOCHONDRIAL DISEASES; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; NEPHROTIC SYNDROME; UBIQUINONE;

EID: 84887992891     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2013.05.013     Document Type: Article

References (30)

1. M. Turunen, J. Olsson, and G. Dallner Metabolism and function of coenzyme Q Biochim Biophys Acta 1660 1-2 2004 171 199
2. U.C. Tran, and C.F. Clarke Endogenous synthesis of coenzyme Q in eukaryotes Mitochondrion 7 Suppl. 2007 S62 S71
3. E. Boitier, F. Degoul, and I. Desguerre A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency J Neurol Sci 156 1 1998 41 46
4. S. Ogasahara, A.G. Engel, D. Frens, and D. Mack Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy Proc Natl Acad Sci U S A 86 7 1989 2379 2382
5. C. Sobreira, M. Hirano, and S. Shanske Mitochondrial encephalomyopathy with coenzyme Q10 deficiency Neurology 48 5 1997 1238 1243
6. R. Artuch, G. Brea-Calvo, and P. Briones Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation J Neurol Sci 246 1-2 2006 153 158
7. R. Horvath, B. Czermin, and S. Gulati Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3 J Neurol Neurosurg Psychiatry 83 2 2012 174 178
8. C. Lagier-Tourenne, M. Tazir, and L.C. Lopez ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency Am J Hum Genet 82 3 2008 661 672
9. C. Lamperti, A. Naini, and M. Hirano Cerebellar ataxia and coenzyme Q10 deficiency Neurology 60 7 2003 1206 1208
10. J. Mollet, A. Delahodde, and V. Serre CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures Am J Hum Genet 82 3 2008 623 630
11. O. Musumeci, A. Naini, and A.E. Slonim Familial cerebellar ataxia with muscle coenzyme Q10 deficiency Neurology 56 7 2001 849 855
12. F. Diomedi-Camassei, S. Di Giandomenico, and F.M. Santorelli COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement J Am Soc Nephrol 18 10 2007 2773 2780
13. A.J. Duncan, M. Bitner-Glindzicz, and B. Meunier A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease Am J Hum Genet 84 5 2009 558 566
14. L.C. Lopez, M. Schuelke, and C.M. Quinzii Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations Am J Hum Genet 79 6 2006 1125 1129
15. J. Mollet, I. Giurgea, and D. Schlemmer Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders J Clin Invest 117 3 2007 765 772
16. C. Quinzii, A. Naini, and L. Salviati A mutation in para-hydroxybenzoate- polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency Am J Hum Genet 78 2 2006 345 349
17. S.F. Heeringa, G. Chernin, and M. Chaki COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness J Clin Invest 121 5 2011 2013 2024
18. K. Gempel, H. Topaloglu, and B. Talim The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene Brain 130 Pt 8 2007 2037 2044
19. R. Horvath, P. Schneiderat, and B.G. Schoser Coenzyme Q10 deficiency and isolated myopathy Neurology 66 2 2006 253 255
20. S.R. Lalani, G.D. Vladutiu, and K. Plunkett Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency Arch Neurol 62 2 2005 317 320
21. L. Salviati, S. Sacconi, and L. Murer Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition Neurology 65 4 2005 606 608
22. A. Rotig, E.L. Appelkvist, and V. Geromel Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency Lancet 356 9227 2000 391 395
23. S. Di Giovanni, M. Mirabella, and A. Spinazzola Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency Neurology 57 3 2001 515 518
24. K.V. Nguyen, E. Ostergaard, and S.H. Ravn POLG mutations in Alpers syndrome Neurology 65 9 2005 1493 1495
25. C.M. Quinzii, L.C. Lopez, and R.W. Gilkerson Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency FASEB J 24 10 2010 3733 3743
26. C.M. Quinzii, L.C. Lopez, A. Naini, S. Dimauro, and M. Hirano Human CoQ10 deficiencies Biofactors 32 1-4 2008 113 118
27. G. Montini, C. Malaventura, and L. Salviati Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency N Engl J Med 358 26 2008 2849 2850
28. R. Montero, M. Pineda, and A. Aracil Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency Cerebellum 6 2 2007 118 122
29. K. Aure, J.F. Benoist, and H. Ogier De Baulny Progression despite replacement of a myopathic form of coenzyme Q10 defect Neurology 63 4 2004 727 729
30. F. Emma, G. Montini, L. Salviati, and C. Dionisi-Vici Renal mitochondrial cytopathies Int J Nephrol 2011 2011 609213