High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
作者： Miho Murata , Chikara Yamasita , Norimichi Nakamura , Yohei Konishi , Kazuki Ohi
DOI: 10.1016/J.NEUROBIOLAGING.2015.01.020
关键词: Neurodegeneration 、 Genetic heterogeneity 、 Intellectual disability 、 Internal medicine 、 Infantile neuroaxonal dystrophy 、 Genetics 、 Neurodegeneration with brain iron accumulation 、 WDR45 、 Biology 、 Parkinsonism 、 Endocrinology 、 PANK2
摘要: Abstract Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous disorder, characterized by the of in regions such as basal ganglia. We enrolled 28 patients childhood intellectual disability and young-onset parkinsonism (≤40 years at onset) 4 infantile neuroaxonal dystrophy. All had been clinically diagnosed, prevalence genetic mutations linked to NBIA ( PANK2 [exons 1–7], PLA2G6 2–17], C19orf12 1–3], WDR45 2–11], COASY 1–9], FA2H RAB39B 1, 2]) was evaluated. detected 7 female (25.0%, 28) de novo heterozygote mutations, which are known be pathogenic for beta-propeller protein-associated neurodegeneration. common clinical features. Pathogenic other genes were not found. also screened 98 early-onset without 110 normal controls Japanese origin mutations. None Our data suggest high frequency neurodegeneration population.
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sci-hub.se 参考文章(21)
John W Eaton, Mingwei Qian, Molecular bases of cellular iron toxicity12 1Guest Editor: Mario Comporti 2This article is part of a series of reviews on “Iron and Cellular Redox Status.” The full list of papers may be found on the homepage of the journal. Free Radical Biology and Medicine. ,vol. 32, pp. 833- 840 ,(2002) , 10.1016/S0891-5849(02)00772-4
Christopher H. Lawrence, Paul A. James, Andrew Churchyard, Yujing Gao, Dean G. Phelan, Greta Gillies, Nicholas Salce, Lynn Stanford, Ashley P.L. Marsh, Maria L. Mignogna, Susan J. Hayflick, Richard J. Leventer, Martin B. Delatycki, George D. Mellick, Vera M. Kalscheuer, Patrizia D’Adamo, Melanie Bahlo, David J. Amor, Paul J. Lockhart, Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean, Maila Giannandrea, Charles A. Galea, Jessica R. Riseley, Sarah E.M. Stephenson, Elizabeth Fitzpatrick, Stefan A. Haas, Kate Pope, Kirk J. Hogan, Ronald G. Gregg, Catherine J. Bromhead, David S. Wargowski, Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. American Journal of Human Genetics. ,vol. 95, pp. 729- 735 ,(2014) , 10.1016/J.AJHG.2014.10.015
Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu, Hirofumi Kodera, Satoko Kumada, Kenji Sugai, Emi Kasai-Yoshida, Noriko Sawaura, Hiroya Nishida, Ai Hoshino, Fukiko Ryujin, Seiichiro Yoshioka, Kiyomi Nishiyama, Yukiko Kondo, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Hirokazu Arakawa, Mitsuhiro Kato, Noboru Mizushima, Naomichi Matsumoto, De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood Nature Genetics. ,vol. 45, pp. 445- 449 ,(2013) , 10.1038/NG.2562
Christian U. Stirnimann, Evangelia Petsalaki, Robert B. Russell, Christoph W. Müller, WD40 proteins propel cellular networks Trends in Biochemical Sciences. ,vol. 35, pp. 565- 574 ,(2010) , 10.1016/J.TIBS.2010.04.003
Laura Carrel, Huntington F. Willard, X-inactivation profile reveals extensive variability in X-linked gene expression in females Nature. ,vol. 434, pp. 400- 404 ,(2005) , 10.1038/NATURE03479
Sabrina Dusi, Lorella Valletta, Tobias B. Haack, Yugo Tsuchiya, Paola Venco, Sebastiano Pasqualato, Paola Goffrini, Marco Tigano, Nikita Demchenko, Thomas Wieland, Thomas Schwarzmayr, Tim M. Strom, Federica Invernizzi, Barbara Garavaglia, Allison Gregory, Lynn Sanford, Jeffrey Hamada, Conceição Bettencourt, Henry Houlden, Luisa Chiapparini, Giovanna Zorzi, Manju A. Kurian, Nardo Nardocci, Holger Prokisch, Susan Hayflick, Ivan Gout, Valeria Tiranti, Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation American Journal of Human Genetics. ,vol. 94, pp. 11- 22 ,(2014) , 10.1016/J.AJHG.2013.11.008
A. Orsi, M. Razi, H. C. Dooley, D. Robinson, A. E. Weston, L. M. Collinson, S. A. Tooze, Dynamic and transient interactions of Atg9 with autophagosomes, but not membrane integration, are required for autophagy Molecular Biology of the Cell. ,vol. 23, pp. 1860- 1873 ,(2012) , 10.1091/MBC.E11-09-0746
Christian Behrends, Mathew E. Sowa, Steven P. Gygi, J. Wade Harper, Network organization of the human autophagy system Nature. ,vol. 466, pp. 68- 76 ,(2010) , 10.1038/NATURE09204
Peter Jenner, Oxidative stress in Parkinson's disease Annals of Neurology. ,vol. 53, ,(2003) , 10.1002/ANA.10483
Susanne A. Schneider, Petr Dusek, John Hardy, Ana Westenberger, Joseph Jankovic, Kailash P. Bhatia, Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). Current Neuropharmacology. ,vol. 11, pp. 59- 79 ,(2013) , 10.2174/157015913804999469