SEARCH

SEARCH BY CITATION

References

  • Alpers BJ. (1931) Diffuse progressive degeneration of the gray matter of the cerebrum. Neurol Psychiatr 25:469505.
  • Bohnert B, Noetzel H. (1974) Beitrag zur familiären spongiösen glioneuralen Dystrophie. Arch Psychiatr Nervenkr 218:353368.
  • Braasch DA, Corey DR. (2001) Locked nucleic acid (LNA): fine-tuning the recognition of DNA and RNA. Chem Biol 8:17.
  • 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 57:921923.
  • Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, Hirano M, DiMauro S. (2006) Early-onset familial parkinsonism due to POLG mutations. Ann Neurol 59:859862.
  • 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 22:498499.
  • 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 128:723731.
  • Gordon N. (2006) Alpers syndrome: progressive neuronal degeneration of children with liver disease. Dev Med Child Neurol 48:10011003.
  • 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 77:430412.
  • Harding BN. (1990) Progressive neuronal degeneration of childhood with liver disease (Alpers–Huttenlocher syndrome): a personal review. J Child Neurol 5:273287.
  • 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 58:320325.
  • He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM. (2002) Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res 30:e68.
  • Hinttala R, Uusimaa J, Remes AM, Rantala H, Hassinen IE, Majamaa K. (2005) Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy. J Mol Med 83:786794.
  • 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 129:16741684.
  • Kaguni LS. (2004) DNA polymerase gamma, the mitochondrial replicase. Annu Rev Biochem 73:293320.
  • Klein H, Dichgans J. (1969) Familiäre juvenile glio-neurale Dystrophie. Akut beginnende progressive Encephalopathie mit rechtsseitigen occipito-parietalen Herdsymptomen und Status epilepticus. Arch Psychiatr Nervenkr 212:400422.
  • Kollberg G, Jansson M, Perez-Bercoff A, Melberg A, Lindberg C, Holme E, Moslemi AR, Oldfors A. (2005) Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations. Eur J Hum Genet 13:463469.
  • 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 52:211219.
  • Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC. (2005) Consequences of mutations in human DNA polymerase gamma. Gene 354:125131.
  • Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A. (2004) Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 364:875882.
  • Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V. (2004) POLG mutation causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 62:316318.
  • Montine TJ, Powers JM, Vogel FS, Radtke RA. (1995) Alpers' syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old male. Clin Neuropathol 14:322326.
  • 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 45:5458.
  • Naviaux RK, Nguyen KV. (2004) POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 55:706712.
  • 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 65:14931495.
  • Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK. (2006) Molecular diagnosis of Alpers syndrome. J Hepatol 45:108116.
  • 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 57:10431049.
  • Remes AM, Majamaa-Voltti K, Kärppä M, Moilanen JS, Uimonen S, Helander H, Rusanen H, Salmela PI, Sorri M, Hassinen IE, Majamaa K. (2005) Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Neurology 64:976981.
  • Rustin P, Chretien D, Bourgeron T, Gerard B, Rotig A, Saudubray JM, Munnich A. (1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 228:3551.
  • Simonati A, Filosto M, Tomelleri G, Savio C, Tonin P, Polo A, Rizzuto N. (2003) Central–peripheral sensory axonopathy in a juvenile case of Alpers–Huttenlocher disease. J Neurol 250:702706.
  • Schwabe MJ, Dobyns WB, Burke B, Amstrong DL. (1997) Valproate-induced liver failure in one of two siblings with Alpers disease. Pediatr Neurol 16:337343.
  • Tesarova M, Mayr JA, Wenchich L, Hansikova H, Elleder M, Blahova K, Sperl W, Zeman J. (2004) Mitochondrial DNA depletion in Alpers syndrome. Neuropediatrics 35:217223.
  • Ulmer S, Flemming K, Hahn A, Stephani U, Jansen O. (2002) Detection of acute cytotoxic changes in progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome) using diffusion-weighted MRI and MR spectroscopy. J Comput Assist Tomogr 26:641646.
  • 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 28:211212.
  • 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. (2003a) Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive externalophthalmoplegia. Neuromuscul Disord 13:133142.
  • Van Goethem G, Mercelis R, Lofgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C. (2003b) Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology 61:18111813.
  • 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 63:12511257.
  • 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 64:12041208.
  • Wörle H, Kohler B, Schlote W, Winkler P, Bastanier CK. (1998) Progressive cerebral degeneration of childhood with liver disease (Alpers Huttenlocher disease) with cytochrome oxidase deficiency presenting with epilepsia partialis continua as the first clinical manifestation. Clin Neuropathol 17:6368.