POLG1 mutations and stroke like episodes: A distinct clinical entity rather than an atypical MELAS syndrome

BMC Neurology

Volumn 13, Issue , 2013, Pages

  Cheldi, Antonella ^a   Ronchi, Dario ^b   Bordoni, Andreina ^b   Bordo, Bianca ^a   Lanfranconi, Silvia ^b   Bellotti, Maria Grazia ^a   Corti, Stefania ^b   Lucchini, Valeria ^b   Sciacco, Monica ^b   Moggio, Maurizio ^b   Baron, Pierluigi ^b   Comi, Giacomo Pietro ^b   Colombo, Antonio ^a   Bersano, Anna ^c  

^a DESIO HOSPITAL   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

MELAS; POLG1; Red ragged fibers; Stroke like

Indexed keywords

CREATINE KINASE; DNA DIRECTED DNA POLYMERASE GAMMA;

AGED; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DYSARTHRIA; DYSPHAGIA; FACIAL NERVE PARALYSIS; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HUMAN; MALE; MELAS SYNDROME; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPHTHALMOPLEGIA; POLYMERASE CHAIN REACTION; PTOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPEECH DISORDER; WEAKNESS;

AGED; DNA-DIRECTED DNA POLYMERASE; ELECTRON TRANSPORT COMPLEX IV; GENETIC TESTING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MELAS SYNDROME; MUSCLE, SKELETAL; MUTATION; STROKE;

EID: 84872156938     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-13-8     Document Type: Article

References (23)

1. Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984, 16:481-488.
2. 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.
3. Di Mauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003, 348:2656-68.
4. Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?. Ann Neurol 2003, 53:128-132.
5. Ravn K, Wibrand F, Hansen FJ, Horn N, Rosenberg T, Schwartz M. An mtDNA mutation, 14453G->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur J Hum Genet 2001, 9:805-809.
6. Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Mutations of the mitochondrial ND1 gene as a cause of MELAS. J Med Genet 2004, 41:784-789.
7. Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW. MELAS associated with mutations in the POLG1 gene. Neurology 2007, 68:1741-1742.
8. Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller 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. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006, 129:1674-1684.
9. Echaniz-Laguna A, Chassagne M, de Sèze J, Mohr M, Clerc-Renaud P, Tranchant C, Mousson de Camaret B. POLG1 variations presenting as multiple sclerosis. Arch Neurol 2010, 67:1140-1143.
10. Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol 2008, 255:1384-1391.
11. Zeviani M, Gellera C, Pannacci M, Uziel G, Prelle A, Servidei S, DiDonato S. Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies. Ann Neurol 1990, 28:94-97.
12. Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S. POLG mutations and Alpers syndrome. Ann Neurol 2005, 57:921-923.
13. Sciacco M, Prelle A, Comi GP, Napoli L, Battistel A, Bresolin N, Tancredi L, Lamperti C, Bordoni A, Fagiolari G, Ciscato P, Chiveri L, Perini MP, Fortunato F, Adobbati L, Messina S, Toscano A, Martinelli-Boneschi F, Papadimitriou A, Scarlato G, Moggio M. Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. J Neurol 2001, 248:778-788.
14. 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.
15. Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 2005, 77:430-441.
16. Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, Bresolin N, Comi GP. Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain. Neurology 2003, 61:903-908.
17. Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002, 52:211-219.
18. González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. Arch Neurol 2006, 63:107-111.
19. Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006, 129:1685-1692.
20. Tzoulis C, Bindoff LA. Melas associated with mutations in the POLG1 gene. Neurology 2008, 70:1054.
21. Tzoulis C, Neckelmann G, Mørk SJ, Engelsen BE, Viscomi C, Moen G, Ersland L, Zeviani M, Bindoff LA. Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain 2010, 133:1428-1437.
22. Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations. Cell Mol Life Sci 2011, 68:219-233.
23. Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, DeVivo DC, DiMauro S, Rowland LP. Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord 1992, 2:125-135.