scholarly journals Distribution of serum creatine kinase levels in amyotrophic lateral sclerosis

2019 ◽  
Vol 61 (3) ◽  
Author(s):  
Devin E. Prior ◽  
Elijah Stommel ◽  
Victoria H. Lawson ◽  
Jason Kandel ◽  
Nathaniel M. Robbins
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Creatine Kinase ◽  
Serum Creatine Kinase ◽  
Lateral Sclerosis

Elevated serum creatine kinase in the early stage of sporadic amyotrophic lateral sclerosis

2019 ◽  
Vol 266 (12) ◽  
pp. 2952-2961 ◽  
Author(s):  
Daisuke Ito ◽  
Atsushi Hashizume ◽  
Yasuhiro Hijikata ◽  
Shinichiro Yamada ◽  
Yohei Iguchi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Creatine Kinase ◽  
Early Stage ◽  
Elevated Serum ◽  
Serum Creatine Kinase ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals Correlation of Creatine Kinase Levels with Clinical Features and Survival in Amyotrophic Lateral Sclerosis

2017 ◽  
Vol 8 ◽  
Author(s):  
Hongfei Tai ◽  
Liying Cui ◽  
Yuzhou Guan ◽  
Mingsheng Liu ◽  
Xiaoguang Li ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Creatine Kinase ◽  
Clinical Features ◽  
Lateral Sclerosis

scholarly journals Significance of Serological Markers in Neurological Function and Progression Rate of Amyotrophic Lateral Sclerosis

2021 ◽  
Author(s):  
Xiaowen Chen ◽  
Junrong Li ◽  
Yingying Lv ◽  
Wei Zhang ◽  
xiujian Xu ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Creatine Kinase ◽  
Uric Acid ◽  
Total Cholesterol ◽  
Cystatin C ◽  
Control Group ◽  
Progression Rate ◽  
Cholesterol Levels ◽  
Als Patients ◽  
Lateral Sclerosis

Abstract Objective The present study was to investigate the significance of creatinine, uric acid, creatine kinase, total cholesterol, triglyceride, HCY (Homocysteine), and cystatin C in neurological function and progression rate of amyotrophic lateral sclerosis. Methods According to the diagnostic criteria of EI-Escorial (2000), 103 patients with ALS were enrolled. All patients were given corresponding serological tests at the initial diagnosis. The Revised ALS Functional Rating Scale (ALSFRS-R) and Disease Progression Rate (DPR) were evaluated. The detected indexes in blood tests included creatinine, uric acid, creatine kinase, total cholesterol, triglycerides, homocysteine, and cystatin C. All data were input into the computer, and the data analysis was performed by SPSS22.0 statistical software.Results 1. There were significant differences in creatinine, uric acid, creatine kinase,
total cholesterol, HCY and cystatin C between the two groups (P<0.05). The levels of uric acid and creatinine of ALS group were lower than those of the control group, and the levels of creatine kinase, total cholesterol, triglyceride, HCY and cystatin C were higher than that in the control group.
2. The results from correlation analysis demonstrated that there was a significant correlation between ALSFRS-R and creatinine (P<0.01), the correlation coefficient was 0.567 (positive correlation); There was also a significant correlation between DPR and creatinine (P<0.01), and the correlation coefficient was -0.808 (negative correlation). The correlations of DPR with triglyceride and total cholesterol were significantly negative correlated (P<0.05), with -0.201 and -0.210 of correlation coefficients, respectively. The remaining indexes did not show any correlation with ALSFRS-R and DPR.
Conclusions 1. Uric acid and creatinine of ALS patients were lower than that in healthy people. Creatine kinase, triglyceride, total cholesterol, HCY, and cystatin C in ALS patients were higher than those in health controls. There were significant metabolic abnormalities in ALS patients.
2. Creatinine level is an independent risk factor affecting ALSFRS-R. The creatinine and total cholesterol levels are also the independent risk factors affecting DPR. Creatinine and total cholesterol levels could be used as reliable indicators to evaluate the ALSFRS-R and DPR of ALS patients.

Creatine kinase level and its relationship with quantitative electromyographic characteristics in amyotrophic lateral sclerosis

2018 ◽  
Vol 129 (5) ◽  
pp. 926-930 ◽  
Author(s):  
Hongfei Tai ◽  
Liying Cui ◽  
Mingsheng Liu ◽  
Yuzhou Guan ◽  
Xiaoguang Li ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Creatine Kinase ◽  
Creatine Kinase Level ◽  
Lateral Sclerosis

scholarly journals Diversity of VCP-related phenotypes: case report and literature review

2021 ◽  
Vol 11 (1) ◽  
pp. 25-38
Author(s):  
G. E. Rudenskaya ◽  
O. L. Mironovich ◽  
A. F. Murtazina ◽  
O. A. Shchagina
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Creatine Kinase ◽  
Muscular Dystrophy ◽  
Exome Sequencing ◽  
Late Onset ◽  
Rapid Progression ◽  
Hereditary Neuropathy ◽  
Paget Disease ◽  
Clinical Exome Sequencing ◽  
Lateral Sclerosis

Background. Gene VCP encoding multifunctional protein valosin produces a number of rare autosomal dominant late-onset disorders with multiple symptoms (muscular dystrophy with inclusion bodies in part of cases, Paget disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis and few others) in different combinations often varying in one family. Rare unusual phenotypes are difficult for recognition. Molecular methods facilitate diagnostics.Objective: to describe first Russian VCP-related familial case detected by exome sequencing and present a review on poorly known disorder.Materials and methods. In a Russian family with 4 patients in 2 generations 6 persons were examined: 2 patients, 3 clinically unaffected possible heterozygous carriers and patient’s mother with no genetic risk; medical information was received about two deceased patients. Methods: clinical and genealogical; biochemical: blood creatine kinase, alpha-glucosidase; molecular: clinical exome sequencing, Sanger familial sequencing, bioinformatical analysis.Results. In 48-year-old proband and 50-year-old brother whose former diagnosis was hereditary neuropathy proximal muscular dystrophy with onset in 43–45 years, rapid progression and moderately raised creatine kinase (341–572 U/l) was found out. Since 45 years the proband also had Paget disease. Both brothers had no evident dementia (neuropsychological examination was not performed). The younger brother since 32 years suffered typical amyotrophic lateral sclerosis, evidently combined with dementia, he died in 43 years being severely disabled; brain is not described in autopsy record. The father had rapidly progressing walking difficulties since 40 years without mental, speech or swallowing disturbances; he was never examined and died in 48 years of heart disease (?). Clinical exome sequencing in the proband detected in VCP exon 5 one of common mutations с.463С>T (p.Arg155Cys) in heterozygous state. Familial Sanger sequencing found out the mutation in him, in the brother and in clinically unaffected 36-year-old sister, 22-year-old daughter and 15-year old son, thus diagnosing preclinical stage of the disease.Conclusions. The case illustrates diversity of VCP-related disorders and necessity to take into consideration all phenotype spectrum. DNA-confirmed diagnosis permits genetic counseling.

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