EFNS guidelines on the molecular diagnosis of mitochondrial disorders

European Journal of Neurology

Volumn 16, Issue 12, 2009, Pages 1255-1264

  Finsterer, J ^a   Harbo, H F ^b   Baets, J ^c,d,e   Van Broeckhoven, C ^d,e   Di Donato, S ^f   Fontaine, B ^g   De Jonghe, P ^c,d,e   Lossos, A ^h   Lynch, T ⁱ   Mariotti, C ^f   Schols L ^j   Spinazzola, A ^f   Szolnoki, Z ^k   Tabrizi, S J ^l   Tallaksen, C M E ^b   Zeviani, M ^f   Burgunder, J M ^m   Gasser, T ⁿ  

^a DANUBE UNIVERSITY KREMS   (Austria)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

ⁱ BEAUMONT HOSPITAL   (Ireland)

^j UNIVERSITY OF TÜBINGEN   (Germany)

^k Pandy County Hospital   (Hungary)

^l NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^m UNIVERSITY OF BERN   (Switzerland)

ⁿ UNIVERSITY OF TÜBINGEN   (Germany)

more..

Author keywords

Encephalomyopathies; Hereditary disease; Metabolic myopathies; Mitochondrial myopathy; Molecular genetics

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA;

ALGORITHM; APOPTOSIS; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL PRACTICE; CONTINUING EDUCATION; DNA MICROARRAY; EUROPE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; KEARNS SAYRE SYNDROME; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; LIVER BIOPSY; MELAS SYNDROME; MERRF SYNDROME; METABOLIC DISORDER; MISSENSE MUTATION; MITOCHONDRIAL MYOPATHY; MITOCHONDRION; MNGIE SYNDROME; MOLECULAR GENETICS; MUSCLE BIOPSY; NARP SYNDROME; NEUROLOGIC DISEASE; PEARSON SYNDROME; POINT MUTATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVIEW; SKIN BIOPSY; SOUTHERN BLOTTING; SYNDROME DELINEATION;

EID: 70450206923     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2009.02811.x     Document Type: Review

References (33)

1. Gasser T, Dichgans M, Finsterer J, et al. EFNS task force on molecular diagnosis of neurologic disorders. Guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts. Eur J Neurol 2001 8 : 407 424. (Pubitemid 34203433)
2. Gasser T, Dichgans M, Finsterer J, et al. EFNS Task Force on molecular diagnosis of neurologic disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts. Eur J Neurol 2001 8 : 299 314. (Pubitemid 32612892)
3. Brainin M, Barnes M, Baron JC, et al. Guidance for the preparation of neurological management guidelines by EFNS scientific task forces - revised recommendations 2004. Eur J Neurol 2004 11 : 577 581.
4. Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 2008 83 : 254 260.
5. Krishnan KJ, Reeve AK, Samuels DC, et al. What causes mitochondrial DNA deletions in human cells? Nat Genet 2008 40 : 275 279.
6. Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Ann Neurol 2008 63 : 405 408.
7. Massa V, Fernandez-Vizarra E, Alshahwan S, et al. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 2008 82 : 1281 1289.
8. Tiranti V, Jaksch M, Hofmann S, et al. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 1999 46 : 161 166.
9. Tsao CY, Herman G, Boué DR, et al. Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review. J Child Neurol 2003 18 : 62 64.
10. Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001 28 : 211 212.
11. Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic communication. Biosci Rep 2007 27 : 39 51.
12. Mollet J, Delahodde A, Serre V, et al. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 2008 82 : 623 630.
13. Blesa JR, Solano A, Briones P, Prieto-Ruiz JA, Hernández-Yago J, Coria F. Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene. Neuromolecular Med 2007 9 : 285 291.
14. Boultwood J, Pellagatti A, Nikpour M, et al. The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. PLoS ONE 2008 3 : e1970.
15. Finsterer J, Jarius C, Eichberger H. Phenotype variability in 130 adult patients with respiratory chain disorders. J Inherit Metab Dis 2001 24 : 560 576.
16. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988 331 : 717 719.
17. Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988 38 : 1339 1346.
18. Rotig A, Colonna M, Bonnefont JP, et al. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet 1989 1 : 902 903.
19. Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990 348 : 651 653.
20. Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990 61 : 931 937.
21. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988 242 : 1427 1430.
22. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990 46 : 428 433.
23. Tatuch Y, Christodoulou J, Feigenbaum A, et al. Heteroplasmic mtDNA mutation (T>G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992 50 : 852 858.
24. Suomalainen A, Kaukonen J, Amati P, et al. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995 9 : 146 151.
25. Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L, Suomalainen A. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 1999 65 : 256 261.
26. Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989 339 : 309 311.
27. Servidei S, Zeviani M, Manfredi G, et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 1991 41 : 1053 1059.
28. Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet 2003 11 : 547 549.
29. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999 283 : 689 692.
30. Copeland WC. Inherited mitochondrial diseases of DNA replication. Annu Rev Med 2008 59 : 131 146.
31. Zeviani M, Di Donato S. Mitochondrial disorders. Brain 2004 127 : 2153 2172.
32. Oldfors A, Tulinius M. Mitochondrial encephalomyopathies. Handb Clin Neurol 2007 86 : 125 165.
33. Alexander C, Votruba M, Pesch UE, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000 26 : 211 215.