SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review

Frontiers in Neurology

Neurology

Ting Xu¹  Juan Yang²  Haining Li²  Jiang Cheng²  Tingting Xuan³  Zhenhai Wang⁴ 

[1] Department of Neural Electrophysiology, Cardiovascular and Cerebrovascular Disease Hospital, General Hospital of Ningxia Medical University, Yinchuan, China;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;Department of Neurology, General Hospital of Ningxia Medical University, Yinchuan, China;School of Clinical Medicine, Ningxia Medical University, Yinchuan, China;Institute of Medical Sciences, General Hospital of Ningxia Medical University, Yinchuan, Ningxia, China;Ningxia Engineering Technology Research Center for Diagnosis and Treatment of Nervous System Diseases, Neurology Center, General Hospital of Ningxia Medical University, Yinchuan, Ningxia, China;

关键词: amyotrophic lateral sclerosis;    Parkinson’s disease;    SIGMAR1;    genotype;    phenotype;   

DOI  :  10.3389/fneur.2023.1242472

 received in 2023-06-19, accepted in 2023-08-22,  发布年份 2023

来源: Frontiers

【 摘 要 】

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 (SIGMAR1) 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 SIGMAR1 gene (c.446-2A > T). In addition, we conducted an investigation into the clinical and molecular phenotype of previously reported variants of SIGMAR1 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 SIGMAR1 mutations in patients.

【 授权许可】

Unknown   
Copyright © 2023 Li, Xuan, Xu, Yang, Cheng and Wang.