Hyperkinetic Movement Disorder in KARS1-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review.

IF 3 Q2 CLINICAL NEUROLOGY
Veronica Ferasin, Arianna Raicich, Caterina Ancora, Ilaria Bonemazzi, Alessandro Di Paola, Ignazio D'Errico, Margherita Nosadini, Claudio Ancona, Maria Federica Pelizza, Matteo Cassina, Irene Toldo
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Abstract

Background: Aminoacyl-tRNA synthetases (ARSs) are a group of enzymes responsible for the first step of protein translation. Among them, the KARS1 gene encodes lysyl-tRNA synthetase 1, an enzyme essential for charging tRNA-Lys with lysine in both the cytoplasm and mitochondria. Mutations in KARS1 are associated with a wide range of clinical phenotypes, including leukoencephalopathy, hereditary deafness, peripheral neuropathies, and multisystemic involvement.

Methods: We hereby report a detailed case study of a 15-month-old boy presenting at age 5 months with developmental delay, microcephaly, hypotonia, sensorineural deafness, retinopathy, visual impairment, nystagmoid eye movements, and hepatic and immuno-hematological abnormalities. In addition, he exhibited a severe hyperkinetic movement disorder, not previously reported in the literature, and developed epilepsy at 13 months. Genetic testing identified two rare compound heterozygous variants in the KARS1 gene.

Results: With this report, we aim to contribute to the expanding of both the clinical phenotype and the allelic spectrum of lysyl-tRNA synthetase-related disorders. Our study also includes a review of previously described KARS1 cases presenting with movement disorders.

Conclusions: Our findings further highlight the importance of assessing systemic involvement and performing brain and spinal neuroimaging, as well as implementing genetic screening, in infants presenting with global developmental delay, sensory deficits, and movement disorders-features that may suggest a mitochondrial disorder such as those involving ARS mutations.

kars1相关疾病的多动运动障碍:一个说明性录像病例和叙述性文献综述。
背景:氨基酰基trna合成酶(ARSs)是一组负责蛋白质翻译第一步的酶。其中,KARS1基因编码赖氨酸- trna合成酶1,这是细胞质和线粒体中赖氨酸向tRNA-Lys充电所必需的酶。KARS1突变与多种临床表型相关,包括白质脑病、遗传性耳聋、周围神经病变和多系统受累。方法:我们在此报告一个详细的病例研究,一个15个月大的男孩在5个月时表现为发育迟缓,小头畸形,张力低下,感音神经性耳聋,视网膜病变,视力障碍,眼球震状运动,肝脏和免疫血液学异常。此外,他还表现出严重的多动运动障碍,这在以前的文献中没有报道过,并在13个月时发展为癫痫。基因检测发现KARS1基因有两个罕见的复合杂合变异体。结果:通过本报告,我们旨在为赖氨酸- trna合成酶相关疾病的临床表型和等位基因谱的扩展做出贡献。我们的研究还包括对先前描述的以运动障碍为表现的KARS1病例的回顾。结论:我们的研究结果进一步强调了在出现全面发育迟缓、感觉缺陷和运动障碍的婴儿中评估全身性病变、进行脑和脊髓神经成像以及实施遗传筛查的重要性,这些特征可能表明存在线粒体疾病,如涉及ARS突变的那些疾病。
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
Neurology International
Neurology International CLINICAL NEUROLOGY-
CiteScore
3.70
自引率
3.30%
发文量
69
审稿时长
11 weeks
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