Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression
Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression
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DOI：
10.3109/17482968.2011.566930
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发表时间：
2011-05-01
影响因子：
--
通讯作者：
Corbo, Massimo
中科院分区：
文献类型：
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作者：
Avemaria, Francesca;Lunetta, Christian;Corbo, Massimo
我们报道了一名意大利男性，患有青少年发病的家族性疾病，其特征是进行性无力和四肢萎缩，且生存期延长。诊断检查显示中枢和外周运动神经元的弥漫性受累。遗传分析显示 senataxin (SETX) 基因中存在 L389S 突变。
We report an Italian male with juvenile onset familial disease characterized by progressive weakness and wasting of four limbs and prolonged survival. Diagnostic work-up revealed the diffuse involvement of central and peripheral motor neurons. Genetic analysis revealed a L389S mutation in the senataxin (SETX) gene.