Neuromuscular Disorders Clinic, National Institute of Neurology and Neurosurgery Dr. Manuel Velasco Suarez, Mexico City, Mexico.
Department of Neurology, Mexican Institute of Social Security, La Raza National Medical Center Specialty Hospital, Mexico City, Mexico.
Neurocase. 2022 Jun;28(3):323-330. doi: 10.1080/13554794.2022.2100265. Epub 2022 Jul 13.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. In 10% the disease is familial and rarely occurs in childbearing age women. A 28-year-old female pregnancy patient presented a two-month history of dropped head syndrome, dysphagia, muscle weakness, atrophy, and lingual wasting. Electromyography supported the diagnosis of ALS. Due to family history and background, we carried out molecular genetic testing. We identified a novel variant of uncertain significance: c. 1566 G > C (p.Arg522Ser) in exon 15 in FUS gene. Our findings provide the first case of ALS onset during pregnancy with a novel mutation in FUS gene reported in Mexico.
肌萎缩侧索硬化症（ALS）是一种神经退行性疾病。该病有 10%为家族性，很少发生在育龄期女性中。一位 28 岁的女性妊娠患者出现了两个月的垂头综合征、吞咽困难、肌肉无力、萎缩和舌肌萎缩。肌电图支持 ALS 的诊断。由于家族史和背景，我们进行了分子遗传学检测。我们发现了一个意义未明的新型变异：FUS 基因外显子 15 中的 c.1566G > C（p.Arg522Ser）。我们的研究结果提供了首例在墨西哥报道的 FUS 基因突变导致妊娠期间发病的 ALS 病例。
