Respiratory Onset Amyotrophic Lateral Sclerosis in a Patient With C9orf72 Expansion.

Q3 Medicine

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI:10.1097/CND.0000000000000556

Reece M Hass, Sandra Reiter-Campeau, Ruple S Laughlin, Teerin Liewluck

引用次数: 0

Abstract

Abstract: Respiratory-onset amyotrophic lateral sclerosis (ALS) is uncommon, accounting for less than 5% of all patients with ALS. Familial ALS is also uncommon, with the most common variant being related to a C9orf72 hexanucleotide repeat expansion. Respiratory-onset ALS in familial ALS is rare, with few cases discussed in the literature related to ERBB4, SOD1, and FUS variants. Here we present a case of respiratory-onset ALS related to a C9orf72 repeat expansion, expanding the spectrum of associated phenotypes associated with C9orf72 expansions and highlighting the importance of genetic testing in patients living with ALS.

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C9orf72扩张患者的呼吸性肌萎缩侧索硬化症。

摘要：呼吸性肌萎缩性侧索硬化症（ALS， respiratory onset肌萎缩性侧索硬化症）并不常见，仅占所有ALS患者的不到5%。家族性ALS也不常见，最常见的变体与C9orf72六核苷酸重复扩增有关。家族性ALS中呼吸性发作的ALS很少见，文献中很少讨论与ERBB4、SOD1和FUS变异相关的病例。在这里，我们提出了一个与C9orf72重复扩增相关的呼吸性ALS病例，扩大了与C9orf72扩增相关的相关表型谱，并强调了基因检测在ALS患者中的重要性。

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

Journal of Clinical Neuromuscular Disease Medicine-Medicine (all)

CiteScore

1.60

自引率

0.00%

发文量

期刊介绍： Journal of Clinical Neuromuscular Disease provides original articles of interest to physicians who treat patients with neuromuscular diseases, including disorders of the motor neuron, peripheral nerves, neuromuscular junction, muscle, and autonomic nervous system. Each issue highlights the most advanced and successful approaches to diagnosis, functional assessment, surgical intervention, pharmacologic treatment, rehabilitation, and more.