A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis

被引:33
作者
Zhao, Zhen-hua [4 ,5 ]
Chen, Wen-zu [4 ,5 ]
Wu, Zhi-ying [1 ,2 ,3 ,4 ,5 ]
Wang, Ning [4 ,5 ]
Zhao, Gui-xian [1 ,2 ,3 ]
Chen, Wan-jin [4 ,5 ]
Murong, Shen-xing [4 ,5 ]
机构
[1] Fudan Univ, Dept Neurol, Shanghai 200040, Peoples R China
[2] Fudan Univ, Inst Neurol, Huashan Hosp, Inst Brain Sci, Shanghai 200040, Peoples R China
[3] Fudan Univ, Shanghai Med Coll, State Key Lab Med Neurobiol, Shanghai 200040, Peoples R China
[4] Fujian Med Univ, Dept Neurol, Fuzhou, Peoples R China
[5] Fujian Med Univ, Inst Neurol, Affiliated Hosp 1, Ctr Neurosci, Fuzhou, Peoples R China
来源
AMYOTROPHIC LATERAL SCLEROSIS | 2009年 / 10卷 / 02期
关键词
Amyotrophic lateral sclerosis; senataxin; sporadic; Chinese; TARDBP MUTATIONS; NEUROPATHY; HELICASE; DISEASE; FORM;
D O I
10.1080/17482960802572673
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Our objective was to investigate the association between senataxin mutations and sporadic amyotrophic lateral sclerosis (ALS) in Chinese patients. DNA from 45 sporadic ALS patients was screened for mutations in senataxin using polymerase chain reaction (PCR) and direct sequencing. A novel variation, Thr1118Ile, was identified in a 42-year-old individual with sporadic ALS. This variation was not detected in 200 unrelated control individuals. In conclusion, the presence of this variation in a patient with sporadic ALS, and its absence in 200 controls, supports an association between senataxin and sporadic ALS. This study has broadened the mutation spectrum of senataxin and expanded the clinical phenotypes of senataxin mutations.
引用
收藏
页码:118 / 122
页数:5
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