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Late-onset leukoencephalopathy in a patient with recessive mutations.

作者信息

Monfrini Edoardo, Ronchi Dario, Franco Giulia, Garbellini Manuela, Straniero Letizia, Scola Elisa, Arienti Federica, Duga Stefano, Comi Giacomo Pietro, Bresolin Nereo, Di Fonzo Alessio

机构信息

Dino Ferrari Centre (E.M., D.R., F.A., G.P.C., N.B., A.D.F.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.F., M.G., F.A., G.P.C., N.B., A.D.F.), Neurology Unit; Department of Biomedical Sciences (L.S., S.D.), Humanitas University, Pieve Emanuele; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.S.), Neuroradiology Unit; and Humanitas Clinical and Research Center (S.D.), IRCCS, Rozzano, Milan, Italy.

出版信息

Neurol Genet. 2020 Jul 13;6(5):e488. doi: 10.1212/NXG.0000000000000488. eCollection 2020 Oct.

DOI:10.1212/NXG.0000000000000488
PMID:32802952
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7413628/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0ed/7413628/19da33ef54ad/NG2020013458f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0ed/7413628/19da33ef54ad/NG2020013458f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0ed/7413628/19da33ef54ad/NG2020013458f1.jpg

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本文引用的文献

1
Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.线粒体氨酰-tRNA 合成酶障碍：一类新兴的髓鞘发育障碍性疾病。
J Neurodev Disord. 2019 Dec 16;11(1):29. doi: 10.1186/s11689-019-9292-y.
2
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.AARS2白质脑病：线粒体脑肌病的一种新变体。
Mol Genet Genomic Med. 2019 Apr;7(4):e00582. doi: 10.1002/mgg3.582. Epub 2019 Jan 31.
3
This variant alters protein function, but is it pathogenic?这种变体改变了蛋白质功能，但它具有致病性吗？
Neurol Genet. 2017 Jul 14;3(4):e173. doi: 10.1212/NXG.0000000000000173. eCollection 2017 Aug.
4
Functionally pathogenic variants in vitro may not manifest a phenotype in vivo.体外具有功能致病性的变异在体内可能不表现出表型。
Neurol Genet. 2017 Jul 14;3(4):e162. doi: 10.1212/NXG.0000000000000162. eCollection 2017 Aug.
5
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.线粒体氨酰tRNA合成酶：基因与综合征
Int J Cell Biol. 2014;2014:787956. doi: 10.1155/2014/787956. Epub 2014 Feb 4.
6
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.伴有丘脑和脑干受累及高乳酸性的脑白质病“LTBL”，由 EARS2 突变引起。
Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4.
7
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.CSF1R 基因突变导致遗传性弥漫性脑白质病变伴硬化症。
Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027.