儿童wars2相关的神经精神表型：一项基于病例的回顾。

IF 1.8 4区医学 Q3 CLINICAL NEUROLOGY

Annals of Indian Academy of Neurology Pub Date : 2025-09-19 DOI:10.4103/aian.aian_235_25

Shabnam Kalita, Vishnupriya Veeraraghavan, Kaushik Ragunathan, Jaya Shankar Kaushik

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引用次数: 0

摘要

摘要：线粒体wars2相关疾病表现出广泛的表型谱，从婴儿期癫痫综合征到多动运动障碍。我们报告一个11岁男性的病例，他表现为震颤、张力障碍跌倒、社交焦虑和冲动控制障碍（ICD），发病于6岁。遗传分析显示WARS2基因可能存在复合杂合突变，涉及外显子4 （p.Thr154ProfsTer66）和外显子1 （p.Trp13Gly）。他对左旋多巴表现出了显著的临床反应。该病例因其罕见而值得注意，据我们所知，这是印度报告的第一例与wars2相关的疾病。

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WARS2-Associated Neuropsychiatric Phenotype in Childhood: A Case-Based Review.

Abstract: Mitochondrial WARS2-related disorders are known to exhibit a broad phenotypic spectrum, ranging from infantile-onset epilepsy syndromes to hyperkinetic movement disorders. We report a case of an 11-year-old male who presented with tremors, dystonic falls, social anxiety, and impulse control disorder (ICD), with onset at 6 years of age. Genetic analysis revealed a likely compound heterozygous mutation in the WARS2 gene, involving exon 4 (p.Thr154ProfsTer66) and exon 1 (p.Trp13Gly). He demonstrated a remarkable clinical response to levodopa. This case is notable for its rarity and to our knowledge, represents the first reported instance of a WARS2-related disorder from India.

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来源期刊

Annals of Indian Academy of Neurology Nervous System Diseases-

CiteScore

2.20

自引率

11.80%

发文量

293

审稿时长

29 weeks

期刊介绍： The journal has a clinical foundation and has been utilized most by clinical neurologists for improving the practice of neurology. While the focus is on neurology in India, the journal publishes manuscripts of high value from all parts of the world. Journal publishes reviews of various types, original articles, short communications, interesting images and case reports. The journal respects the scientific submission of its authors and believes in following an expeditious double-blind peer review process and endeavors to complete the review process within scheduled time frame. A significant effort from the author and the journal perhaps enables to strike an equilibrium to meet the professional expectations of the peers in the world of scientific publication. AIAN believes in safeguarding the privacy rights of human subjects. In order to comply with it, the journal instructs all authors when uploading the manuscript to also add the ethical clearance (human/animals)/ informed consent of subject in the manuscript. This applies to the study/case report that involves animal/human subjects/human specimens e.g. extracted tooth part/soft tissue for biopsy/in vitro analysis.