扩展极早发青少年亨廷顿氏病的表型：病例报告和以往发表病例的回顾。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-10-23 DOI:10.1002/ajmg.a.63894

Zöe Powis, Jonathon Lutz, Khalida Liaquat, Jyes A Querubin, Sat Dev Batish

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引用次数: 0

摘要

极早发的幼年亨廷顿氏病（HD）已在三名患者身上得到描述，他们发病年龄大约在18个月到2岁之间。在此，我们报告了一名据我们所知发病年龄最小、显性扩增规模最大的患者。我们还总结了之前报道的发病极早的幼年 HD 病例。这些信息对深入了解这种表型非常重要，有助于更早诊断，并有望在未来找到救命的治疗方法。

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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Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases.

Extremely early-onset juvenile Huntington's disease (HD) has been described in three patients with onset at approximately 18 months to 2 years of age. Herein, we report a patient with, to our knowledge, the youngest age of onset with the largest reported explicit expansion size. We also summarize the previously reported cases of extremely early-onset juvenile HD. This information is important to gain insight into this phenotype for earlier diagnosis and in the hopes of future lifesaving treatments.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.