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POLR3相关脑白质营养不良

POLR3-related Leukodystrophy.

作者信息

Thomas Aby, Thomas Anna Kalathil

机构信息

Department of Radiology, University of Ten nessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee, USA.

出版信息

J Clin Imaging Sci. 2019 Oct 24;9:45. doi: 10.25259/JCIS_116_2019. eCollection 2019.

DOI:10.25259/JCIS_116_2019
PMID:31768296
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6826334/
Abstract

Pol III-related leukodystrophy is a recently recognized category of leukodystrophy with characteristic clinical presentation and imaging findings. These cases are diagnosed by the combination of typical clinical presentation, brain magnetic resonance imaging findings, and the presence of biallelic pathogenic mutations in three specific genes. We present the case of a 6-year-old girl who demonstrated the classic clinical and imaging features of this disorder. This case report aims to raise awareness of this disorder so that it is easily recognized in the appropriate setting.

摘要

与RNA聚合酶III相关的脑白质营养不良是一种最近才被认识的脑白质营养不良类型，具有特征性的临床表现和影像学表现。这些病例通过典型的临床表现、脑磁共振成像结果以及三个特定基因中双等位基因致病性突变的存在来诊断。我们报告了一名6岁女孩的病例，她表现出了这种疾病的经典临床和影像学特征。本病例报告旨在提高对这种疾病的认识，以便在适当的情况下能够容易地识别它。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/fc9ff234d38e/JCIS-9-45-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/b1ae9e849a5b/JCIS-9-45-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/3aed1c491b2f/JCIS-9-45-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/33b3fe3d1d36/JCIS-9-45-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/e7f9a8f622a7/JCIS-9-45-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/46271edc4e3d/JCIS-9-45-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/fc9ff234d38e/JCIS-9-45-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/b1ae9e849a5b/JCIS-9-45-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/3aed1c491b2f/JCIS-9-45-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/33b3fe3d1d36/JCIS-9-45-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/e7f9a8f622a7/JCIS-9-45-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/46271edc4e3d/JCIS-9-45-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6fc/6826334/fc9ff234d38e/JCIS-9-45-g006.jpg

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本文引用的文献

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Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.脑白质营养不良：一种基于病理变化和发病机制的分类系统提议
Acta Neuropathol. 2017 Sep;134(3):351-382. doi: 10.1007/s00401-017-1739-1. Epub 2017 Jun 21.
2
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.POLR3A基因突变对具有纹状体受累异常表型患者的全转录组影响
Hum Mol Genet. 2016 Oct 1;25(19):4302-4314. doi: 10.1093/hmg/ddw263. Epub 2016 Aug 9.
3
Diffuse hypomyelination is not obligate for POLR3-related disorders.
临床表型及 POLR3A 突变致脱髓鞘白质营养不良-7 家系的遗传学功能分析
Sci Rep. 2024 Apr 1;14(1):7638. doi: 10.1038/s41598-024-58452-6.
4
A Chinese patient with -related leukodystrophy: a case report and literature review.一名患有-相关脑白质营养不良的中国患者：病例报告及文献综述。
Front Neurol. 2023 Oct 27;14:1269237. doi: 10.3389/fneur.2023.1269237. eCollection 2023.
5
MAF1, a repressor of RNA polymerase III-dependent transcription, regulates bone mass.MAF1，RNA 聚合酶 III 依赖性转录的抑制剂，调节骨量。
Elife. 2022 May 25;11:e74740. doi: 10.7554/eLife.74740.
弥漫性髓鞘形成减少并非POLR3相关疾病所必需。
Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30.
4
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.POLR1C基因的隐性突变通过损害RNA聚合酶III的生物合成导致脑白质营养不良。
Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623.
5
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.由POLR3A和POLR3B突变引起的4H型脑白质营养不良的临床谱。
Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.
6
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.与聚合酶III相关的脑白质营养不良中的脑磁共振成像（MRI）模式识别
J Child Neurol. 2014 Feb;29(2):214-20. doi: 10.1177/0883073813503902. Epub 2013 Oct 7.
7
More than hypomyelination in Pol-III disorder.不仅仅是 Pol-III 障碍中的少突胶质细胞发育不良。
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Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014.