Senataxin mutations and amyotrophic lateral sclerosis.
Senataxin mutations and amyotrophic lateral sclerosis.
复制标题
Senataxin 突变和肌萎缩侧索硬化症。
DOI：
10.3109/17482968.2010.545952
复制
发表时间：
2011-05
期刊：
影响因子：
--
通讯作者：
Rowland LP
中科院分区：
文献类型：
--
作者：
Hirano M;Quinzii CM;Mitsumoto H;Hays AP;Roberts JK;Richard P;Rowland LP
我们研究了三名SETX基因突变的患者。1例为青少年起病的ALS。第二例类似于遗传性运动神经病。第三例患者有共济失调-震颤和运动神经元病的重叠综合征，这些表型以前与SETX突变相关。我们的患者都明显是散发性的，没有其他受影响的亲属。2号患者的两个亲属携带SETX c.4660T>；G易位，但没有表现出运动神经元病、异常眼球运动、共济失调或震颤，这表明遗传或环境修饰因素可能会影响这种SETX基因多态性的表达。患者1和3的亲属无法接受检查或SETX突变筛查。导致ALS4的突变可能比预期的更频繁和异质性。SETX突变的筛查应考虑在明显散发性幼年型ALS、遗传性运动神经病以及重叠综合征与共济失调和运动神经元病的患者中。
We studied three patients with mutations in the senataxin gene (SETX). One had juvenile onset of ALS. The second case resembled hereditary motor neuropathy. The third patient had an overlap syndrome of ataxia-tremor and motor neuron disease, phenotypes previously associated with SETX mutations. Our patients were all apparently sporadic, with no other affected relative. Two relatives of patient no. 2 carried the SETX c.4660T > G transversion but did not manifest motor neuron disease, abnormal eye movements, ataxia, or tremor suggesting that genetic or environmental modifiers may influence expression of this SETX polymorphism. Relatives of patients 1 and 3 were not available for examination or SETX mutation screening. Mutations causing ALS4 may be more frequent and heterogeneous than expected. Screening for SETX mutations should be considered in patients with apparently sporadic juvenile-onset ALS, hereditary motor neuropathy, and overlap syndromes with ataxia and motor neuron disease.
登录
查看更多内容
影响因子：
14.5
作者：
Dierick, Ines;Baets, Jonathan;Timmerman, Vincent
通讯作者：
Timmerman, Vincent
影响因子：
6.1
作者：
Chen, Ying-Zhang;Hashemi, Sayed H.;Bennett, Craig L.
通讯作者：
Bennett, Craig L.
影响因子：
14.5
作者：
MYRIANTHOPOULOS, NC;LANE, MH;VINCENT, BL
通讯作者：
VINCENT, BL
影响因子：
14.5
作者：
Rabin, BA;Griffin, JW;Cornblath, DR
通讯作者：
Cornblath, DR
影响因子：
3.4
作者：
Kolb, Stephen J.;Sutton, Scott;Schoenberg, Daniel R.
通讯作者：
Schoenberg, Daniel R.