Objective: To understand the relationship between Cu,Zn SOD and amyotrophic lateral sclerosis. Methods: The patients were clinically examined and classified according to the E1 Escorial Criteria, then we obtained bloo...Objective: To understand the relationship between Cu,Zn SOD and amyotrophic lateral sclerosis. Methods: The patients were clinically examined and classified according to the E1 Escorial Criteria, then we obtained blood samples from the patients for Cu,Zn SOD analysis and SOD assay. Amino acid analysis of Cu,Zn SOD were fully automated in instruments called amino acid analyzers. SOD assay was determined by cytochrome c method Results: Amino acid analysis of Cu,Zn SOD from patients with familial ALS was normal. The activity of Cu,Zn SOD was normal both in familial and sporadic form of ALS compared with normal person. Conclusion: Amyotrophic lateral sclerosis is not related to Cu,Zn SOD.展开更多
The concept, definition, and diagnosis of amyotrophic lateral sclerosis(ALS) currently present some problems. This article systematically reviews the literature on the history, current concepts, definition, and diagno...The concept, definition, and diagnosis of amyotrophic lateral sclerosis(ALS) currently present some problems. This article systematically reviews the literature on the history, current concepts, definition, and diagnosis of ALS, and discloses the present problems based on the retrieved literature and the authors' clinical experience. The current concepts and definitions of ALS have not yet been unified or standardized in clinical practice, and are sometimes vague or inaccurate, which can cause difficulties for neurologists in the clinical treatment of ALS. The concept and definition of ALS need to be further ascertained, and the current diagnostic criteria for ALS require further development. The identification of effective and objective biomarkers may be a feasible method for the early and accurate diagnosis of ALS. Therefore, future research should focus on the identification of reliable biomarkers—especially neuroimaging biomarkers—through autopsy. Standardizing the concept and definition of ALS and formulating clear diagnostic criteria will largely avoid many uncertainties in the future clinical research and treatment of ALS, which will greatly benefit patients.展开更多
Amyotrophic lateral sclerosis(ALS)is the most common adult-onset motor neuron disease.It is characterized by neuronal loss and degeneration of the upper motor neurons(UMNs)and lower motor neurons(LMNs),and is usually ...Amyotrophic lateral sclerosis(ALS)is the most common adult-onset motor neuron disease.It is characterized by neuronal loss and degeneration of the upper motor neurons(UMNs)and lower motor neurons(LMNs),and is usually fatal due to respiratory failure within 3–5 years of onset.Although approximately 5–10%of patients with ALS have an inherited form of the disease,the distinction between hereditary and apparently sporadic ALS(SALS)seems to be artificial.Thus,genetic factors play a role in all types of ALS,to a greater or lesser extent.During the decade of upheaval,the evolution of molecular genetics technology has rapidly advanced our genetic knowledge about the causes of ALS,and the relationship between the genetic subtypes and clinical phenotype.In this review,we will focus on the possible genotype-phenotype correlation in hereditary ALS.Uncovering the identity of the genetic factors in ALS will not only improve the accuracy of ALS diagnosis,but may also provide new approaches for preventing and treating the disease.展开更多
文摘Objective: To understand the relationship between Cu,Zn SOD and amyotrophic lateral sclerosis. Methods: The patients were clinically examined and classified according to the E1 Escorial Criteria, then we obtained blood samples from the patients for Cu,Zn SOD analysis and SOD assay. Amino acid analysis of Cu,Zn SOD were fully automated in instruments called amino acid analyzers. SOD assay was determined by cytochrome c method Results: Amino acid analysis of Cu,Zn SOD from patients with familial ALS was normal. The activity of Cu,Zn SOD was normal both in familial and sporadic form of ALS compared with normal person. Conclusion: Amyotrophic lateral sclerosis is not related to Cu,Zn SOD.
基金supported by the National Natural Science Foundation of China,No.30560042,81160161 and 81360198(all to RSX)grants from the Education Department of Jiangxi Province,No.GJJ13198 and GJJ170021(both to RSX)+3 种基金grants from Jiangxi Provincial Department of Science and Technology,No.2014-47,20142BBG70062,and 20171BAB215022(all to RSX)a grant from Health and Family Planning Commission of Jiangxi Province,No.20181019(to RSX)a grant from Jiangxi Provincial Department of Science and Technology Gan Po Elite 555,No.2015108(to RSX)the Innovation Fund Designated for Graduate Students of Jiangxi Province,No.YC2016-B027 and YC2015-S097(both to RSX)。
文摘The concept, definition, and diagnosis of amyotrophic lateral sclerosis(ALS) currently present some problems. This article systematically reviews the literature on the history, current concepts, definition, and diagnosis of ALS, and discloses the present problems based on the retrieved literature and the authors' clinical experience. The current concepts and definitions of ALS have not yet been unified or standardized in clinical practice, and are sometimes vague or inaccurate, which can cause difficulties for neurologists in the clinical treatment of ALS. The concept and definition of ALS need to be further ascertained, and the current diagnostic criteria for ALS require further development. The identification of effective and objective biomarkers may be a feasible method for the early and accurate diagnosis of ALS. Therefore, future research should focus on the identification of reliable biomarkers—especially neuroimaging biomarkers—through autopsy. Standardizing the concept and definition of ALS and formulating clear diagnostic criteria will largely avoid many uncertainties in the future clinical research and treatment of ALS, which will greatly benefit patients.
基金by Grants-in-Aid for Science Research from the Ministry of Education,Culture,Sports,Science and Technology of Japan(No.24591269).
文摘Amyotrophic lateral sclerosis(ALS)is the most common adult-onset motor neuron disease.It is characterized by neuronal loss and degeneration of the upper motor neurons(UMNs)and lower motor neurons(LMNs),and is usually fatal due to respiratory failure within 3–5 years of onset.Although approximately 5–10%of patients with ALS have an inherited form of the disease,the distinction between hereditary and apparently sporadic ALS(SALS)seems to be artificial.Thus,genetic factors play a role in all types of ALS,to a greater or lesser extent.During the decade of upheaval,the evolution of molecular genetics technology has rapidly advanced our genetic knowledge about the causes of ALS,and the relationship between the genetic subtypes and clinical phenotype.In this review,we will focus on the possible genotype-phenotype correlation in hereditary ALS.Uncovering the identity of the genetic factors in ALS will not only improve the accuracy of ALS diagnosis,but may also provide new approaches for preventing and treating the disease.
