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Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochm ler H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, HolinskiFeder E, Chinnery PF, Horvath R: What is influencing the phenotype of the typical homozygous polymerase- mutation p.Ala467Thr Brain 2012, 135:36146. two. 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 reason for autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002, 52:2119. 3. Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP: POLG mutations in sporadic mitochondrial problems with various mtDNA deletions. Hum Mutat 2003, 22:4989. 4. Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A: Parkinsonism, premature menopause, and mitochondrial DNA polymerase g mutations: clinical and molecular genetic study. Lancet 2004, 364:8752. five. Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM: Mitochondrial myopathy in a kid having a muscle-restricted mutation within the mitochondrial transfer RNAAsn gene. Biochem Biophys Res Commun 2011, 412:5181. six. Ferreira M, Evangelista T, Almeida LS, Martins J, Macario MC, Martins E, Moleirinho A, Azevedo L, Vilarinho L, Santorelli FM: Relative frequency of known causes of numerous mtDNA deletions: two novel POLG mutations. Neuromuscul Disord 2011, 21:483.11.12.13.14.15.Hauser DN, Hastings TG: Mitochondrial dysfunction and oxidative tension in Parkinson’s illness and monogenic parkinsonism. Neurobiol Dis 2013, 51:352. Exner N, Lutz AK, Haass C, Winklhofer KF: Mitochondrial dysfunction in Parkinson’s illness: molecular mechanisms and pathophysiological consequences. EMBO J 2012, 31:30382. Synofzik M, Asmus F, Reimold M, Sch s L, Berg D: Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism. Mov Disord 2010, 25:243. Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, Hirano M, DiMauro S: Early-onset familial parkinsonism due to POLG mutations.Adenosine Ann Neurol 2006, 59:8592.Amivantamab Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF: Mutation on the linker region of the polymerase gamma-1 (POLG1) gene related to progressive external ophthalmoplegia and Parkinsonism.PMID:23776646 Arch Neurol 2007, 64:553. Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M: Two novel POLG1 mutations within a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. Neuromuscul Disord 2008, 18:460. Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S: Clinical and genetic heterogeneity in progressive external ophthalmoplegia resulting from mutations in polymerase gamma. Arch Neurol 2003, 60:12794. Hisama FM, Mancuso M, Filosto M, DiMauro S: Progressive external ophthalmoplegia: a new family members with tremor and peripheral neuropathy. Am J Med Genet A 2005, 135:217. Saneto RP, Naviaux RK: Polymerase gamma disease by means of the ages. Dev Disabil Res Rev 2010, 16:1634.doi:ten.1186/1471-2350-14-105 Cite this short article as: Bandettini di Poggio et al.: Dopamine-agonist responsive Parkinsonism inside a patient together with the SANDO syndrome triggered by POLG mut.

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