Li Haining, Xuan Tingting, Xu Ting, Yang Juan, Cheng Jiang, Wang Zhenhai
Department of Neurology, General Hospital of Ningxia Medical University, Yinchuan, China.
Diagnosis and Treatment Engineering Technology Research Center of Nervous System Disease of Ningxia Hui Autonomous Region, Yinchuan, China.
Front Neurol. 2023 Sep 13;14:1242472. doi: 10.3389/fneur.2023.1242472. eCollection 2023.
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons, with occasional involvement of the extrapyramidal system. Mutations in the sigma non-opioid intracellular receptor 1 () gene have been identified as one of the causes of ALS. Here, we present a case of a 49-year-old man diagnosed with ALS-Parkinson's disease (PD) complex. The patient exhibited bradykinesia and tremor, and whole-exome sequencing revealed homozygous mutations in the gene (c.446-2A > T). In addition, we conducted an investigation into the clinical and molecular phenotype of previously reported variants of associated with ALS. This case report aims to raise awareness among physicians regarding atypical phenotypes of amyotrophic lateral sclerosis and to encourage further research on the factors leading to mutations in patients.
肌萎缩侧索硬化症（ALS）是一种毁灭性的神经退行性疾病，其特征是上、下运动神经元进行性退化，偶尔累及锥体外系。已确定σ非阿片类细胞内受体1（）基因突变是ALS的病因之一。在此，我们报告一例49岁男性被诊断为ALS-帕金森病（PD）综合征的病例。该患者表现出运动迟缓及震颤，全外显子测序显示该基因存在纯合突变（c.446-2A＞T）。此外，我们对先前报道的与ALS相关的基因变异的临床和分子表型进行了研究。本病例报告旨在提高医生对肌萎缩侧索硬化症非典型表型的认识，并鼓励对导致患者基因突变的因素进行进一步研究。
