The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

Methods

Volumn 51, Issue 4, 2010, Pages 364-373

  Cohen, Bruce H ^a   Naviaux, Robert K ^b  

^a LERNER RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Alpers Huttenlocher syndrome; Ataxia neuropathy spectrum disorders; Childhood myocerebrohepatopathy spectrum; Mitochondrial disease diagnosis; Mitochondrial DNA depletion syndrome; Myoclonic epilepsy myopathy sensory ataxia; POLG; Progressive external ophthalmoplegia

Indexed keywords

ALBUMIN; BENZOIC ACID; BILIRUBIN; CARBAMAZEPINE; CARBIDOPA; CARNITINE; CELL NUCLEUS DNA; CHOLESTEROL; DNA DIRECTED DNA POLYMERASE GAMMA; ETIRACETAM; FELBAMATE; FOLIC ACID; FOLINATE CALCIUM; FOLINIC ACID; LAMOTRIGINE; LEVODOPA; MITOCHONDRIAL DNA; MUSCLE RELAXANT AGENT; NARCOTIC AGENT; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; PRIMIDONE; TETRABENAZINE; TOPIRAMATE; TYROSINE; UBIDECARENONE; VALPROATE SEMISODIUM; VALPROIC ACID; VITAMIN B COMPLEX;

ALPERS DISEASE; ARTIFICIAL VENTILATION; ATAXIA NEUROPATHY SPECTRUM DISORDER; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD CLOTTING DISORDER; CENTRAL NERVOUS SYSTEM DISEASE; CHOREA; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIET THERAPY; DISEASE SEVERITY; DNA SEQUENCE; ECHOCARDIOGRAPHY; ECHOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; FAMILY COUNSELING; FOLIC ACID DEFICIENCY; FUNCTIONAL ASSESSMENT; GENE DELETION; GENE DUPLICATION; HUMAN; HYPERAMMONEMIA; HYPOALBUMINEMIA; LIVER DYSFUNCTION; LIVER FAILURE; LIVER FUNCTION TEST; LIVER HISTOLOGY; LUNG FUNCTION TEST; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL GENE; MYOCEREBROHEPATOPATHY SPECTRUM DISORDER; MYOCLONIC EPILEPSY MYOPATHY SENSORY ATAXIA; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL ASSESSMENT; NUTRITIONAL SUPPORT; OCCUPATIONAL THERAPY; ONSET AGE; PALLIATIVE THERAPY; PARKINSONISM; PHENOTYPE; PHYSIOTHERAPY; POLG GENE; POLYSOMNOGRAPHY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PROTHROMBIN TIME; QUALITY OF LIFE; REVIEW; SEIZURE; SPEECH THERAPY; TREATMENT CONTRAINDICATION;

DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; EPILEPSIES, MYOCLONIC; HUMANS; MITOCHONDRIAL DISEASES; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL;

EID: 77955269817     PISSN: 10462023     EISSN: 10959130     Source Type: Journal    
DOI: 10.1016/j.ymeth.2010.05.008     Document Type: Review

References (71)

1. Alpers B.J. Arch. Neurol. Psychiatry 1931, 25:469-505.
2. Jakob A. Dtsch. Z. Nervenheilkd. 1930, 116:240-253.
3. Blackwood W., Buxton P.H., Cumings J.N., Robertson D.J., Tucker S.M. Arch. Dis. Child. 1963, 38:193-204.
4. Sandbank U., Lerman P. J. Neurol. Neurosurg. Psychiatry 1972, 35:749-755.
5. Huttenlocher P.R., Solitare G.B., Adams G. Arch. Neurol. 1976, 33:186-192.
6. Prick M.J., Gabreëls F.J., Renier W.O., Trijbels J.M., Sengers R.C., Slooff J.L. Arch. Neurol. 1981, 38:767-772.
7. Prick M.J., Gabreëls F.J., Renier W.O., Trijbels J.M., Willems J.L., Janssen A.J., Slooff J.L., Geelen J.A., de Jager J.P. Neuropediatrics 1982, 13:108-111.
8. Gabreëls F.J., Prick M.J., Trijbels J.M., Renier W.O., Jaspar H.H., Janssen A.J., Slooff J.L. Acta Neurol. Scand. 1984, 70:145-154.
9. Wörle H., Körle H., Köhler B., Schlote W., Winkler P., Bastanier C.K. Clin. Neuropathol. 1998, 17:63-68.
10. Harding B.N. J. Child Neurol. 1990, 5:273-287.
11. Ropp P.A., Copeland W.C. Genomics 1996, 36:449-458.
12. Lecrenier N., Van Der Bruggen P., Foury F. Gene 1997, 185:147-152.
13. Naviaux R.K., Nyhan W.L., Barshop B.A., Poulton J., Markusic D., Karpinski N.C., Haas R.H. Ann. Neurol. 1999, 45:54-58.
14. Van Goethem G., Dermaut B., Lofgren A., Martin J.J., Van Broeckhoven C. Nat. Genet. 2001, 28:211-212.
15. Nishino I., Spinazzola A., Hirano M. Science 1999, 283:689-692.
16. Naviaux R.K., Naviaux R.K., Nguyen K.V. Ann. Neurol. 2004, 55:706-712.
17. Wong L.J., Naviaux R.K., Brunetti-Pierri N., Zhang Q., Schmitt E.S., Truong C., Milone M., Cohen B.H., Wical B., Ganesh J., Basinger A.A., Burton B.K., Swoboda K., Gilbert D.L., Vanderver A., Saneto R.P., Maranda B., Arnold G., Abdenur J.E., Waters P.J., Copeland W.C. Hum. Mutat. 2008, 10(29):E150-E172.
18. Van Goethem G., Dermaut B., Lofgren A., Martin J.-J., Van Broeckhoven C. Nat. Genet. 2001, 28:211-212.
19. Lamantea E., Tiranti V., Bordoni A., Toscano A., Bono F., Servidei S., Papadimitriou A., Spelbrink H., Silvestri L., Casari G., Comi G.P., Zeviani M. Ann. Neurol. 2002, 52:211-219.
20. Van Goethem G., Martin J.J., Dermaut B., Lofgren A., Wibail A., Ververken D., Tack P., Dehaene I., Van Zandijcke M., Moonen M. Neuromuscul. Disord. 2003, 13:133-142.
21. Naviaux R.K., Nguyen K.V. Ann. Neurol. 2004, 55:706-712.
22. Luoma P., Melberg A., Rinne J.O., Kaukonen J.A., Nupponen N.N., Chalmers R.M., Oldfors A., Rautakorpi I., Peltonen L., Majamaa K., et al. Lancet 2004, 364:875-882.
23. Ferrari G., Lamantea E., Donati A., Filosto M., Briem E., Carrara F., Parini R., Simonati A., Santer R., Zeviani M. Brain 2005, 128:723-731.
24. Luoma P.T., Luo N., Loscher W.N., Farr C.L., Horvath R., Wanschitz J., Kiechl S., Kaguni L.S., Suomalainen A. Hum. Mol. Genet. 2005, 14:1907-1920.
25. Davidzon G., Mancuso M., Ferraris S., Quinzii C., Hirano M., Peters H.L., et al. Ann. Neurol. 2005, 57:921-924.
26. Horvath R., Hudson G., Ferrari G., Fütterer N., Ahola S., Lamantea E., et al. Brain 2006, 129:1674-1684.
27. Tzoulis C., Engelsen B.A., Telstad W., Aasly J., Zeviani M., Winterthun S., Ferrari G., Aarseth J.H., Bindoff L.A. Brain 2006, 129:1685-1692.
28. Chan S.S.L., Longley M.J., Naviaux R.K., Copeland W.C. DNA Repair 2005, 4:1381-1389.
29. Longley M.J., Nguyen D., Kunkel T.A., Copeland W.C. J. Biol. Chem. 2001, 276:38555-38562.
30. Kasiviswanathan R., Longley M.J., Chan S.S.L., Copeland W.C. J. Biol. Chem. 2009, 284:19501-19510.
31. Chan S.S.L., Copeland W.C. Mitochondrial DNA: Methods and Protocols 2009, vol. 554:59-72. Human Press. second ed.
32. Graziewicz M.A., Bienstock R.J., Copeland W.C. Hum. Mol. Genet. 2007, 16:2729-2739.
33. Ferraris S., Clark S., Garelli E., Davidzon G., Moore S.A., Kardon R.H., Bienstock R.J., Longley M.J., Mancuso M., Rios P.G., Hirano M., Copeland W.C., DiMauro S. Arch. Neurol. 2008, 65:125-131.
34. Longley M.J., Clark S., Yu Wai Man C., Hudson G., Durham S.E., Taylor R.W., Nightingale S., Turnbull D.M., Copeland W.C., Chinnery P.F. Am. J. Hum. Genet. 2006, 78:1026-1034.
35. Copeland W.C. Annu. Rev. Med. 2008, 59:131-146.
36. Ricci E., Moraes C.T., Servidei S., Tonali P., Bonilla E., DiMauro S. Brain Pathol. 1992, 2:141-147.
37. Sarzi E., Bourdon A., Chrétien D., Zarhrate M., Corcos J., Slama A., Cormier-Daire V., de Lonlay P., Munnich A., Rötig A. J. Pediatr. 2007, 150:531-534.
38. Mandel H., Szargel R., Labay V., et al. Nat. Genet. 2001, 29:337-341.
39. Spinazzola A., Viscomi C., Fernandez-Vizarra E., Carrara F., D'Amado P., Calvo S., et al. Nat. Genet. 2006, 38:570-575.
40. Karadimas C.L., Vu T.H., Holve S.A. Am. J. Hum. Genet. 2006, 79:544-548.
41. Bourdon A., Minai L., Serre V. Nat. Genet. 2007, 39:776-778.
42. Elpeleg O., Miller C., Hershkovitz E., et al. Am. J. Hum. Genet. 2005, 76:1081-1086.
43. Ostergaard E., Christensen E., Kristensen E., Mogensen B., Duno M., Shoubridge E.A., Wibrand F. Am. J. Hum. Genet. 2007, 81:383-387.
44. Saada A., Shaag A., Mandel H., Nevo Y., Eriksson S., Elpeleg O. Nat. Genet. 2001, 29:342-344.
45. B.H. Cohen, P.F. Chinnery, W.C. Copeland, in: GeneReviews at GeneTests: Medical Genetics Information Resource, Copyright, University of Washington, Seattle, 2010. Available from: (database online). http://www.genetests.org.
46. Gauthier-Villars M., Landrieu P., Cormier-Daire V., Jacquemin E., Chretien D., Rotig A., Rustin P., Munnich A. Neuropediatrics 2001, 32:150-152.
47. Naviaux R.K., Nguyen K.V. Ann. Neurol. 2005, 58:491.
48. Nguyen K.V., Sharief F., Chan S.S.L., et al. J. Hepatol. 2006, 45:108-116.
49. Harding B.N. J. Child Neurol. 1990, 5:273-287.
50. Hakonen A.H., Heiskanen S., Juvonen V., Lappalainen I., Luoma P.T., Rantamaki M., Goethem G.V., Lofgren A., Hackman P., Paetau A., Kaakkola S., Majamaa K., Varilo T., Udd B., Kaariainen H., Bindoff L.A., Suomalainen A. Am. J. Hum. Genet. 2005, 77:430-441.
51. Winterthun S., Ferrari G., He L., Taylor R.W., Zeviani M., Turnbull D.M., Engelsen B.A., Moen G., Bindoff L.A. Neurology 2005, 64:1204-1208.
52. Saneto R.P., Lee I.C., Koenig M.K., Bao X., Weng S.W., Naviaux R.K., Wong L.J. Seizure 2010, 19:140-146.
53. Nguyen K.V., Østergaard E., Ravn S.H., Balslev T., Danielsen E.R., Vardag A., McKiernan P.J., Gray G., Naviaux R.K. Neurology 2005, 8(65):1493-1495.
54. Bicknese A.R., May W., Hickey W.F., Dodson W.E. Ann. Neurol. 1992, 32:767-775.
55. Mancuso M., Filosto M., Bellan M., Liguori R., Montagna P., Baruzzi A., DiMauro S., Carelli V. Neurology 2004, 27:316-318.
56. Van Goethem G., Luoma P., Rantamaki M., Al Memar A., Kaakkola S., Hackman P., Krahe R., Lofgren A., Martin J.J., De Jonghe P. Neurology 2004, 63:1251-1257.
57. Di Fonzo A., Bordoni A., Crimi M., Sara G., Del Bo R., Bresolin N., Comi G.P. Hum. Mutat. 2003, 22:498-499.
58. Mochel F., Slama A., Touati G., Desguerre I., Giurgea I., Rabier D., Brivet M., Rustin P., Saudubray J.M., DeLonlay P. J. Clin. Endocrinol. Metab. 2005, 90:3780-3785.
59. Smith J.K., Mah J.K., Castillo M. Clin. Imaging 1996, 20:235-237.
60. Wolf N.I., Rahman S., Schmitt B., Taanman J.W., Duncan A.J., Harting I., Wohlrab G., Ebinger F., Rating D., Bast T. Epilepsia 2009, 50:1596-1607.
61. Simonati A., Filosto M., Savio C., Tomelleri G., Tonin P., Dalla Bernardina B., Rizzuto N. Acta Neuropathol. 2003, 106:57-65.
62. Boyd S.G., Harden A., Egger J., Pampiglione G. Neuropediatrics 1986, 17:75-80.
63. Van Goethem G., Mercelis R., Lofgren A., Seneca S., Ceuterick C., Martin J.J., Van Broeckhoven C. Neurology 2003, 61:1811-1813.
64. Fadic R., Russell J.A., Vedanarayanan V.V., Lehar M., Kuncl R.W., Johns D.R. Neurology 1997, 49:239-245.
65. Pagnamenta A.T., Taanman J.W., Wilson C.J., Anderson N.E., Marotta R., Duncan A.J., Bitner-Glindzicz M., Taylor R.W., Laskowski A., Thorburn D.R., et al. Hum. Reprod. 2006, 21(2006):2467-2473.
66. Poulton J., Hirano M., Spinazzola A., Arenas Hernandez M., Jardel C., Lombès A., Czermin B., Horvath R., Taanman J.W., Rotig A., Zeviani M., Fratter C. Biochim. Biophys. Acta 2009, 1792:1109-1112.
67. Bohan T.P., Helton E., McDonald I., König S., Gazitt S., Sugimoto T., Scheffner D., Cusmano L., Li S., Koch G. Neurology 2001, 56:1405-1409.
68. Hasselmann O., Blau N., Ramaekers V.T., Quadros E.V., Sequeira J.M., Weissert M. Mol. Genet. Metab. 2010, 99:58-61.
69. Parikh S., Saneto R., Falk M.J., Anselm I., Cohen B.H., Haas R. Curr. Treat. Options Neurol. 2009, 11:414-430.
70. Gold D.R., Cohen B.H. Semin. Neurol. 2001, 21:309-325.
71. Gallagher R.C., Van Hove J.L., Scharer G., Hyland K., Plecko B., Waters P.J., Mercimek-Mahmutoglu S., Stockler-Ipsiroglu S., Salomons G.S., Rosenberg E.H., Struys E.A., Jakobs C. Ann. Neurol. 2009, 65:550-556.