Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.
作者： O Dogu , CE Krebs , H Kaleagasi , Z Demirtas , N Oksuz
DOI: 10.1111/CGE.12079
关键词:
摘要: Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive degeneration the central nervous system high basal ganglia deposition. The list identified causative genes for NBIA syndromes continues to expand includes one autosomal dominant, X-linked, number recessive forms. Mitochondrial membrane protein-associated neurodegeneration is recently described syndrome caused C19orf12 mutations. In this study, we report two consanguineous families homozygous p.Thr11Met mutation. Our patients presented at later age had more rapid disease progression, leading early death in two, than those previously reported. We conclude that mutation associated wide phenotypic heterogeneity, further research needed examine role related elucidate its protein function as well other factors may affect progression expression.
sci-hub.se 参考文章(22)
Alisdair Mcneill, Patrick F. Chinnery, Neurodegeneration with brain iron accumulation Handbook of Clinical Neurology. ,vol. 100, pp. 161- 172 ,(2011) , 10.1016/B978-0-444-52014-2.00009-4
Bing Zhou, Shawn K. Westaway, Barbara Levinson, Monique A. Johnson, Jane Gitschier, Susan J. Hayflick, A novel pantothenate kinase gene ( PANK2 ) is defective in Hallervorden-Spatz syndrome Nature Genetics. ,vol. 28, pp. 345- 349 ,(2001) , 10.1038/NG572
Andrew R.J. Curtis, Constanze Fey, Christopher M Morris, Laurence A. Bindoff, Paul G. Ince, Patrick F. Chinnery, Alan Coulthard, Margaret J. Jackson, Andrew P. Jackson, Duncan P. McHale, David Hay, William A. Barker, Alex F. Markham, David Bates, Ann Curtis, John Burn, Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genetics. ,vol. 28, pp. 350- 354 ,(2001) , 10.1038/NG571
Jane Gitschier, Eamonn R Maher, Susan J Hayflick, Neil V Morgan, Shawn K Westaway, Jenny E V Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangul, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C Trembath, Alessandro Simonati, Carolyn Schanen, Colin A Johnson, Barbara Levinson, C Geoffrey Woods, Beth Wilmot, Patricia Kramer, PLA2G6, Encoding a Phospholipase A2, Is Mutated in Neurodegenerative Disorders With High Brain Iron Nature Genetics. ,vol. 38, pp. 752- 754 ,(2006) , 10.1038/NG1826
Celeste Panteghini, Giovanna Zorzi, Paola Venco, Sabrina Dusi, Chiara Reale, Dario Brunetti, Luisa Chiapparini, Federica Zibordi, Brigitte Siegel, Barbara Garavaglia, Alessandro Simonati, Enrico Bertini, Nardo Nardocci, Valeria Tiranti, C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation Seminars in Pediatric Neurology. ,vol. 19, pp. 75- 81 ,(2012) , 10.1016/J.SPEN.2012.03.006
Allison Gregory, Susan J. Hayflick, Genetics of Neurodegeneration with Brain Iron Accumulation Current Neurology and Neuroscience Reports. ,vol. 11, pp. 254- 261 ,(2011) , 10.1007/S11910-011-0181-3
Norbert Brüggemann, Johann Hagenah, Kathrin Reetz, Alexander Schmidt, Meike Kasten, Inga Buchmann, Susanne Eckerle, Manfred Bähre, Alexander Münchau, Ana Djarmati, Joyce Van Der Vegt, Hartwig Siebner, Ferdinand Binkofski, Alfredo Ramirez, Maria I Behrens, Christine Klein, None, Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. JAMA Neurology. ,vol. 67, pp. 1357- 1363 ,(2010) , 10.1001/ARCHNEUROL.2010.281
J. Raphael Gibbs, Andrew Singleton, Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond PLOS Genetics. ,vol. 2, ,(2006) , 10.1371/JOURNAL.PGEN.0020150
Michael C. Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y. Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Munnich, Stephanie Gobin, Brenda J. Polster, Silvia Palmeri, Simon Edvardson, John Hardy, Henry Houlden, Susan J. Hayflick, Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA) Annals of Neurology. ,vol. 68, pp. 611- 618 ,(2010) , 10.1002/ANA.22122
Rainer Prohaska, Ody C.M. Sibon, Dobrila D. Rudnicki, Adrian Danek, Susan J. Hayflick, Esther M. Verhaag, Jan J. Vonk, Russell L. Margolis, Ruth H. Walker, Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration. Neurobiology of Disease. ,vol. 46, pp. 607- 624 ,(2012) , 10.1016/J.NBD.2012.03.006