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

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A Pub Date : 2024-10-23 DOI:10.1002/ajmg.a.63894

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

引用次数: 0

Abstract

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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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。

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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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .