一例25岁女性孤立性头部震颤。

IF 3.9 2区医学 Q1 CLINICAL NEUROLOGY

Annals of Clinical and Translational Neurology Pub Date : 2025-10-09 DOI:10.1002/acn3.70221

Ying Zhao, Zhihong Xu, Xingyu Zhuang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji

引用次数: 0

摘要

本研究报告了一名25岁女性，主要表现为孤立性头部震颤，同时伴有1型糖尿病、双侧听力损失和脑白质病，由于单个大mtDNA缺失（m.8647-16082del）被诊断为线粒体疾病。

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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The Case of a 25-Year-Old Woman With Isolated Head Tremor.

This study reported a 25-year-old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647-16082del).

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来源期刊

Annals of Clinical and Translational Neurology Medicine-Neurology (clinical)

CiteScore

9.10

自引率

1.90%

发文量

218

审稿时长

8 weeks

期刊介绍： Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.