C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation

被引:18
作者
Gagliardi, Monica [1 ]
Annesi, Grazia [1 ]
Lesca, G. [2 ,3 ]
Broussolle, E. [4 ,5 ]
Iannello, Grazia [1 ,6 ]
Vaiti, Vincenzo [1 ]
Gambardella, Antonio [6 ]
Quattrone, Aldo [1 ,6 ]
机构
[1] CNR, Inst Mol Bioimaging & Physiol, Sect Germaneto, I-88100 Germaneto, CZ, Italy
[2] Univ Lyon 1, Dept Med Genet, Hosp Civils Lyon, F-69365 Lyon, France
[3] CNR, CRNL, UMR 5292, INSERM,U1028, Lyon, France
[4] Univ Lyon 1, Ctr Neurosci Cognit, CNRS, UMR5229, F-69365 Lyon, France
[5] Hop Neurol & Neurochirurg P Wertheimer, Serv Neurol C, Lyon, France
[6] Magna Graecia Univ Catanzaro, Dept Med & Surg Sci, Inst Neurol, Catanzaro, Italy
关键词
C19orf12; NBIA; MPAN; Iron accumulation;
D O I
10.1016/j.parkreldis.2015.04.009
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A novel subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) recently has been described: mitochondrial membrane protein-associated neurodegeneration (MPAN), caused by mutations of c19orf12 gene. We present phenotypic data and results of screening of C19orf12 in five unrelated NBIA families. Our data led to identify novel pathogenic mutations in C19orf12. (C) 2015 Elsevier Ltd. All rights reserved.
引用
收藏
页码:813 / 816
页数:4
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