1.Amyotrophic lateral sclerosis caused by a rare mutation in the SOD1 gene at p. H44R locus: a case report and literature review
Journal of Apoplexy and Nervous Diseases 2023;40(11):1040-1044
Objective This study aims to explore the clinical characteristics of common mutation sites in the SOD1 gene and provide assistance for the early identification, diagnosis, and course evaluation of amyotrophic lateral sclerosis (ALS). Methods The clinical data and genetic testing results of a patient with ALS caused by the c.131A>G:p.H44R mutation in the second exon of the SOD1 gene were retrospectively analyzed and discussed in conjunction with the literature. Results The patient presented with pain and weakness in the right lower limb accompanied by muscle atrophy. No positive signs were observed in the sensory system. The electromyogram revealed subclinical neurogenic changes in the unaffected limbs. Whole-exome sequencing identified a rare mutation in exon c.131A>G:p.H44R of the SOD1 gene. Conclusion Early diagnosis of ALS is challenging, and the clinical manifestations vary depending on the gene site mutations. Genetic testing can assist in diagnosis and has significant identification value in the early stages of the disease.
2.Research progress on event-related potential P300 in cognitive dysfunction in Parkinson disease
Yijin HUANG ; Jiaoqi WANG ; Zhongxin XU
Journal of Apoplexy and Nervous Diseases 2023;40(12):1145-1148
Parkinson disease (PD) is a common neurodegenerative disease. Cognitive dysfunction seriously affects the quality of life of patients with PD, increasing their family burden. Currently, there are no clinically identified biomarkers to assist with the early diagnosis of cognitive impairment in patients with PD. Event-related potential P300 is a sensitive electrophysiological indicator to detect early insidious cognitive decline in PD. This article reviews the diagnostic value and clinical application of P300 for cognitive impairment in patients with PD.
3.Application value of serum carbonic anhydrase Ⅲ as a new biomarker in the clinical diagnosis of Alzheimer disease
Jiaoqi REN ; Jinxiu WANG ; Jiantao WANG ; Yanli ZHANG ; Xuechun WANG ; Jingchun GUO ; Houguang ZHOU
Chinese Journal of Clinical Medicine 2024;31(5):696-704
Objective To explore the application value and related factors of serum carbonic anhydrase Ⅲ (CAⅢ) in the clinical diagnosis of mild to moderate Alzheimer disease (AD). Methods A total of 106 elderly patients initially diagnosed with mild to moderate AD at Huashan Hospital, Fudan University from October 2020 to November 2022 were enrolled as the AD group, and 89 healthy elderly people during the same period were enrolled as the control group. The serum biochemical indicators including liver and kidney function, blood lipids, blood glucose, folic acid and homocysteine were detected in both groups. Cognitive function was assessed by Mini-mental State Examination (MMSE). Patient Health Questionnaire-9 (PHQ-9) and Generalized Anxiety Disorder-7 (GAD-7) were used to assess psychological status. The activities of daily living (ADL) were assessed by modified Barthel Index (BI). Serum CAⅢ levels were measured by enzyme-linked immunosorbent assay (ELISA). Correlation analysis and multivariate linear regression analysis were used to identify factors influencing serum CAⅢ levels, and receiver operating characteristic (ROC) curve analysis was performed to evaluate the diagnostic value of serum CAⅢ levels in elderly patients with mild to moderate AD. Results The MMSE score of the AD group was significantly lower than that of the control group (P<0.001), and the PHQ-9 and GAD-7 scores were significantly higher than those of the control group (P<0.001). The serum CAⅢ level in the AD group was significantly lower than that in the control group (P<