Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
作者： Olof Danielsson , István Gáti , Anne-Marie Landtblom , Jon Jonasson
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摘要: Case histories of two unrelated patients suffering from sensory ataxic neuropathy, dysarthria/ dysphagia and external ophthalmoplegia (SANDO) are reported. Both showed compound heterozygosity for POLG1 gene mutations, presented with symptom the clinical characteristics SANDO. A patient a p.A467T p.W748S, well-known mutations progressive course early onset multisystem involvement, including symptoms mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The second less p.T251I p.G848S late dysphagia/dysarthria dominated, moderate symptoms. This later is published case history, when these possible background SANDO, dominantly presenting bulbar
researchgate.net 参考文章(10)
Petri Luoma, Atle Melberg, Juha O Rinne, Jyrki A Kaukonen, Nina N Nupponen, Richard M Chalmers, Anders Oldfors, Ilkka Rautakorpi, Leena Peltonen, Kari Majamaa, Hannu Somer, Anu Suomalainen, Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. The Lancet. ,vol. 364, pp. 875- 882 ,(2004) , 10.1016/S0140-6736(04)16983-3
Charalampos Tzoulis, Bernt A Engelsen, Wenche Telstad, Jan Aasly, Massimo Zeviani, Synnøve Winterthun, Gianfrancesco Ferrari, Jan H Aarseth, Laurence A Bindoff, The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases Brain. ,vol. 129, pp. 1685- 1692 ,(2006) , 10.1093/BRAIN/AWL097
Eleonora Lamantea, Valeria Tiranti, Andreina Bordoni, Antonio Toscano, Francesco Bono, Serena Servidei, Alex Papadimitriou, Hans Spelbrink, Laura Silvestri, Giorgio Casari, Giacomo P. Comi, Massimo Zeviani, Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia Annals of Neurology. ,vol. 52, pp. 211- 219 ,(2002) , 10.1002/ANA.10278
Massimo Zeviani, Guglielmo Scarlato, Serenella Servidei, Nereo Bresolin, Stefano DiDonato, Patrizia Amati, Marilou Pannacci, Maurizio Moggio, Andreina Bordoni, Cinzia Gellera, Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. American Journal of Human Genetics. ,vol. 47, pp. 904- 914 ,(1990)
J. Vissing, K. Ravn, E.R. Danielsen, M. Duno, F. Wibrand, R.A. Wevers, M. Schwartz, Multiple mtDNA deletions with features of MNGIE Neurology. ,vol. 59, pp. 926- 929 ,(2002) , 10.1212/WNL.59.6.926
William Lewis, Brian J Day, James J Kohler, Seyed H Hosseini, Sherine S L Chan, Elgin C Green, Chad P Haase, Erin S Keebaugh, Robert Long, Tomika Ludaway, Rodney Russ, Jeffrey Steltzer, Nina Tioleco, Robert Santoianni, William C Copeland, DECREASED mtDNA, OXIDATIVE STRESS, CARDIOMYOPATHY, AND DEATH FROM TRANSGENIC CARDIAC TARGETED HUMAN MUTANT POLYMERASE γ * Laboratory Investigation. ,vol. 87, pp. 326- 335 ,(2007) , 10.1038/LABINVEST.3700523
Anna H. Hakonen, Silja Heiskanen, Vesa Juvonen, Ilse Lappalainen, Petri T. Luoma, Maria Rantamäki, Gert Van Goethem, Ann Löfgren, Peter Hackman, Anders Paetau, Seppo Kaakkola, Kari Majamaa, Teppo Varilo, Bjarne Udd, Helena Kääriäinen, Laurence A. Bindoff, Anu Suomalainen, Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin American Journal of Human Genetics. ,vol. 77, pp. 430- 441 ,(2005) , 10.1086/444548
Michael D. Weiss, Russell P. Saneto, Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. Muscle & Nerve. ,vol. 41, pp. 882- 885 ,(2010) , 10.1002/MUS.21636
Gert Van Goethem, Marianne Schwartz, Ann Löfgren, Bart Dermaut, Christine Van Broeckhoven, John Vissing, Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy European Journal of Human Genetics. ,vol. 11, pp. 547- 549 ,(2003) , 10.1038/SJ.EJHG.5201002
P. H. M. F. van Domburg, A. A. W. M. Gabreëls-Festen, F. J. M. Gabreëls, R. de Coo, W. Ruitenbeek, P. Wesseling, H. ter Laak, Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status Brain. ,vol. 119, pp. 997- 1010 ,(1996) , 10.1093/BRAIN/119.3.997