Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features

Epilepsia

Volumn 54, Issue 6, 2013, Pages 1002-1011

  Uusimaa, Johanna ^a   Gowda, Vasantha ^b   McShane, Anthony ^b   Smith, Conrad ^c   Evans, Julie ^c   Shrier, Annie ^a   Narasimhan, Manisha ^d   O'Rourke, Anthony ^c   Rajabally, Yusuf ^d   Hedderly, Tammy ^e   Cowan, Frances ^e,f   Fratter, Carl ^c   Poulton, Joanna ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

Children; Genetic epilepsies; Metabolic diseases; Mitochondrial diseases

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; LACTIC ACID; MITOCHONDRIAL DNA; VALPROIC ACID;

ADOLESCENT; ARTICLE; AUTISM; CEREBROSPINAL FLUID; CHILD; CLINICAL FEATURE; ENZYME ACTIVE SITE; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; INFANT; INTRACTABLE EPILEPSY; INTRON; LIVER DYSFUNCTION; LIVER FAILURE; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCHOOL CHILD;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; DNA-DIRECTED DNA POLYMERASE; EPILEPSY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION; NEUROIMAGING; PREVALENCE; PROSPECTIVE STUDIES;

EID: 84878602088     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12115     Document Type: Article

References (43)

1. Aicardi J, (2004) Epilepsy in children. 12th ed. Lippincott-Raven, Philadelphia, PA; pp. 351-352.
2. Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C, Poulton J,. (2008) Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum Mol Genet 15: 2496-2506.
3. Berg AT,. (2009) Identification of pharmacoresistant epilepsy. Neurol Clin 27: 1003-1013.
4. Canafoglia L, Franceschetti S, Antozzi C,. (2001) Epileptic phenotypes associated with mitochondrial disorders. Neurology 56: 1340-1346.
5. Chawla S, Aneja S, Kashyap R, Mallika V,. (2002) Etiology and clinical predictors of intractable epilepsy. Pediatr Neurol 27: 186-191.
6. Davidzon G, Mancuso M, Ferrari S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S,. (2005) POLG mutations and Alpers syndrome. Ann Neurol 57: 921-923.
7. Delgado-Escueta AV, Bourgeois BF,. (2008) Debate: does genetic information in humans help us treat patients? PRO-genetic information in humans helps us treat patients. CON-genetic information does not help at all. Epilepsia 49 (Suppl. 9): 13-24.
8. Di Fonzo A, Bordoni A, Crimi M, Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP,. (2003) POLG mutations is sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat 22: 498-499.
9. El Sabbagh SEL, Sabbagh S, Lebre AS, Bahi-Buisson N, Delonlay P, Soufflet C, Boddaert N, Rio M, Rötig A, Dulac O, Munnich A, Desguerre I,. (2010) Epileptic phenotypes in children with respiratory chain disorders. Epilepsia 51: 1225-1235.
10. Elmslie F, Gardiner M, Lehesjoki AE,. The epilepsies. In, Rimoin D, Conner J, Pyertiz R, Korf V, (Eds) Emery and Rimoimn′s principles and practise of medical genetics. 4th ed. Churchill Livingstone, Philadelphia, PA & London, pp. 3036-3075.
11. Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA,. (2008) POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131: 818-828.
12. Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M,. (2005) Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128: 723-731.
13. Fillano JJ, Goldenthal MJ, Rhodes CH, Marín-García J,. (2002) Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome. J Child Neurol 17: 435-439.
14. Gordon N,. (2006) Alpers syndrome: progressive neuronal degeneration of children with liver disease. Dev Med Child Neurol 48: 1001-1003.
15. Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamäki M, Goethem GV, Löfgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kääriäinen H, Bindoff LA, Suomalainen A,. (2005) Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77: 430-441.
16. Harding BN, Alsanjari N, Smith SJ, Wiles CM, Thrush D, Miller DH, Scaravilli F, Harding AE,. (1995) Progressive neuronal degeneration of childhood with liver disease (Alpers′disease) presenting in young adults. J Neurol Neurosurg Psychiatry 58: 320-325.
17. Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H, Lochmuller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF,. (2006) Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Brain 129: 1674-1684.
18. Ko TS, Holmes GL,. (1999) EEG and clinical predictors of medically intractable childhood epilepsy. Clin Neurophysiol 110: 1245-1251.
19. Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A,. (2006) POLG1 mutations assiciated with progressive encephalopathy in childhood. J Neuropathol Exp Neurol 65: 758-768.
20. Kwan P, Arzimanoglou A, Berg AT, Brodie MJ, Allen Hauser W, Mathern G, Moshé SL, Perucca E, Wiebe S, French J,. (2010) Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies. Epilepsia 51: 1069-1077.
21. Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M,. (2002) Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 52: 211-219.
22. Morten KJ, Ashley N, Wijburg F, Hadzic N, Parr J, Jayawant S, Adams S, Bindoff L, Bakker HD, Mieli-Vergani G, Zeviani M, Poulton J,. (2007) Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion. Mitochondrion 7: 386-395.
23. Naviaux RK, Nguyen KV,. (2004) POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 55: 706-712.
24. Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, Haas RH,. (1999) Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol 45: 54-58.
25. Nguyen KV, Ostergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK,. (2005) POLG mutations in Alpers syndrome. Neurology 65: 1493-1495.
26. Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK,. (2006) Molecular diagnosis of Alpers syndrome. J Hepatol 45: 108-116.
27. Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, Serratosa J, Zara F, Scheffer IE,. (2010) Genetic testing in the epilepsies-report of the ILAE Genetics Commission. Epilepsia 51: 655-670.
28. Poulton J, Holt IE,. (2009) 163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands. Neuromuscul Disord 19: 439-443.
29. Poulton J, Morten KJ, Freeman-Emmerson C, Potter CG, Sewry C, Dubowitz V, Kidd H, Stephenson J, Whitehouse W, Hansen FJ, Parisi M, Brown G,. (1994) Does deficiency of the human mitochondrial transcription factor h-mtTFA cause infantile mitochondrial myopathy with mtDNA depletion? Hum Mol Genet 3: 1763-1769.
30. Poulton J, Sewry C, Potter C, Bourgeron T, Chretien D, Wijburg F, Morten KJ, Brown G,. (1995) Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mitochondrial DNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inherit Metab Dis 18: 4-20.
31. Rantamäki M, Krahe R, Paetau A, Cormand B, Mononen I, Udd B,. (2001) Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. Neurology 57: 1043-1049.
32. Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux RK, Wong LJ,. (2010) POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure 19: 140-146.
33. Sillanpää M,. (1993) Remission of seizures and predictors of intractability in long term follow up. Epilepsia 34: 930-936.
34. Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW,. (2009) Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. J Med Genet 46: 209-214.
35. Tesarova M, Mayr JA, Wenchich L, Hansikova H, Elleder M, Blahova K, Sperl W, Zeman J,. (2004) Mitochondrial DNA depletion in Alpers syndrome. Neuropediatrics 35: 217-223.
36. Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA,. (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129: 1685-1692.
37. Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K,. (2008) Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Epilepsia 49: 1038-1045.
38. Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C,. (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28: 211-212.
39. Van Goethem G, Martin JJ, Dermaut B, Lofgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C,. (2003) Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive externalophthalmoplegia. Neuromuscul Disord 13: 133-142.
40. Van Goethem G, Luoma P, Rantamaki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Lofgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C,. (2004) POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 63: 1251-1257.
41. Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA,. (2005) Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64: 1204-1208.
42. Wolf NI, Rahman S, Schmitt B, Taanman JW, Duncan AJ, Harting I, Wohlrab G, Ebinger F, Rating D, Bast T,. (2009) Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. Epilepsia 50: 1596-1607.
43. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenu JE, Waters PJ, Copeland WC,. (2008) Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 29: E150-E172.