A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy

Q4 Medicine

Romanian Journal of Neurology/ Revista Romana de Neurologie Pub Date : 2022-06-30 DOI:10.37897/rjn.2022.2.4

H. Ahmed, Ouardia Belarbi, S. Daoudi, P. Labauge, Carra Dallier Clarisse, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, H. Cavé

引用次数: 0

Abstract

Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results. The diagnosis is made by characteristic combination of clinical signs, brain magnetic resonance imaging results and the presence of pathogenic biallelic mutations in specific genes: POLR3A, POLR3B, POLR3C which encode the RNA polymerase III enzyme subunits. We present the case of a 32-year-old young man who presented with spastic ataxia due to a new rare mutation in the POLR3A gene, splicing variant c.3892-5C > T.

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一种新的罕见的POLR3A基因纯合突变导致共济性痉挛性脑白质营养不良

聚合酶III (Polymerase III, Pol III)相关的脑白质营养不良是一类罕见的脑白质营养不良，近年来被发现影响神经系统和其他身体系统，具有典型的临床表现和影像学结果。结合临床体征、脑磁共振成像结果以及编码RNA聚合酶III酶亚基的特定基因POLR3A、POLR3B、POLR3C存在致病性双等位基因突变的特征性组合进行诊断。我们报告一例32岁的年轻男性，由于POLR3A基因的一种新的罕见突变，剪接变体c.3892-5C > T出现痉挛性共济失调。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Romanian Journal of Neurology/ Revista Romana de Neurologie Medicine-Neurology (clinical)

CiteScore

0.40

自引率

0.00%

发文量

审稿时长

4 weeks

期刊介绍： ROMANIAN JOURNAL OF NEUROLOGY (Revista Română de Neurologie), the official journal of the Romanian Society of Neurology, was founded in 2001, being a prestigious scientific journal that provides a high quality in terms of scientific content, but also the editorial and graphic aspect, both through an impartial process of selection, evaluation and correction of articles (peer review procedure), as well as providing editorial, graphic and printing conditions at the highest level. In order to increase the scientific standards of the journal, special attention was paid to the improvement of the quality of the published materials. Guidance articles, clinical trials and case studies are structured in several sections: reviews, original articles, case reports, images in neurology. All articles are published entirely in English. A team of reputable medical professionals in the field of neurology is involved in a rigorous peer review process that complies with international ethics and quality rules in the academic world.