Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis

2021 ◽  
Author(s):  
Genki Tohnai ◽  
Ryoichi Nakamura ◽  
Naoki Atsuta ◽  
Masahiro Nakatochi ◽  
Naoki Hayashi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Mutation Screening ◽  
Japanese Patients ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis

2021 ◽  
Vol 97 ◽  
pp. 147.e11-147.e17
Author(s):  
Ryoichi Nakamura ◽  
Genki Tohnai ◽  
Naoki Atsuta ◽  
Masahiro Nakatochi ◽  
Naoki Hayashi ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Amyotrophic Lateral Sclerosis ◽  
Japanese Patients ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis

2018 ◽  
Vol 64 ◽  
pp. 158.e15-158.e19 ◽  
Author(s):  
Genki Tohnai ◽  
Ryoichi Nakamura ◽  
Jun Sone ◽  
Masahiro Nakatochi ◽  
Daichi Yokoi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Japanese Patients ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Gene Variants ◽  
Tbk1 Gene ◽  
Lateral Sclerosis

VCP gene analyses in Japanese patients with sporadic amyotrophic lateral sclerosis identify a new mutation

2015 ◽  
Vol 36 (3) ◽  
pp. 1604.e1-1604.e6 ◽  
Author(s):  
Makito Hirano ◽  
Yusaku Nakamura ◽  
Kazumasa Saigoh ◽  
Hikaru Sakamoto ◽  
Shuichi Ueno ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Japanese Patients ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
New Mutation ◽  
Lateral Sclerosis

scholarly journals Glutathione S-transferase Omega 2 DD genotype is associated with an increased risk of sporadic amyotrophic lateral sclerosis in Chinese men

2021 ◽  
Vol 49 (7) ◽  
pp. 030006052110332
Author(s):  
Zhiliang Fan ◽  
Hong Jiang ◽  
Xueqin Song ◽  
Yansu Guo ◽  
Xinying Tian
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Healthy Subjects ◽  
Chinese Population ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Glutathione S Transferase ◽  
Genotype Frequencies ◽  
Sporadic Als ◽  
Increased Risk ◽  
Chi Squared ◽  
Lateral Sclerosis

Objective To investigate whether GSTA1, GSTO2, and GSTZ1 are relevant to an increased risk of amyotrophic lateral sclerosis (ALS) in a Chinese population. Methods In this study, 143 sporadic ALS (sALS) patients (83 men, 60 women) and 210 age- and sex-matched healthy subjects were enrolled. Blood samples were collected by venipuncture. Genomic DNA was isolated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) according to the manufacturer’s instructions. The potential associations between ALS and GSTA1, GSTO2, and GSTZ1 polymorphisms were estimated using chi-squared analysis and unconditional logistic regression. Results The D allele and genotype frequencies of GSTO2 were increased in sALS patients compared with healthy subjects, indicating that the GSTO2 DD genotype was associated with an increased risk of sALS (odds ratio [OR] = 3.294, 95% confidence interval [CI] = 1.039–10.448). However, a significant association between the DD genotype and the risk of sALS was evident in men only (OR = 7.167, 95% CI = 1.381–37.202). Conclusion This study revealed that the D allele and genotype frequencies of GSTO2 were increased in sALS patients. The GSTO2 DD genotype was associated with an increased risk of sALS in men in a Chinese population.

scholarly journals Zinc transporters ZnT3 and ZnT6 are downregulated in the spinal cords of patients with sporadic amyotrophic lateral sclerosis

2014 ◽  
Vol 93 (2) ◽  
pp. 370-379 ◽  
Author(s):  
Masayuki Kaneko ◽  
Takao Noguchi ◽  
Saori Ikegami ◽  
Takeyuki Sakurai ◽  
Akiyoshi Kakita ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Zinc Transporters ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis

2015 ◽  
Vol 33 (4) ◽  
pp. 735-748 ◽  
Author(s):  
Jeffrey M. Statland ◽  
Richard J. Barohn ◽  
April L. McVey ◽  
Jonathan S. Katz ◽  
Mazen M. Dimachkie
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Clinical Diagnosis ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis
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