A novel L67P SOD1 mutation in an Italian ALS patient
A novel L67P SOD1 mutation in an Italian ALS patient
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DOI：
10.3109/17482968.2011.551939
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发表时间：
2011-03-01
影响因子：
--
通讯作者：
Sabatelli, Mario
中科院分区：
文献类型：
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作者：
del Grande, Alessandra;Luigetti, Marco;Sabatelli, Mario
肌萎缩侧索硬化症（ALS）是一种影响运动神经元的进行性神经退行性疾病。我们描述了一种新的L 67 P突变位于外显子3的铜/锌超氧化物歧化酶基因的患者与纯下运动神经元的迹象。迄今为止，已描述了11个涉及SOD 1外显子3的突变，包括本突变。我们的数据证实，可变的外显率和主要的下运动神经元受累是SOD 1基因外显子3突变患者的共同特征。
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. We describe a novel L67P mutation located in exon 3 of the Cu/Zn superoxide dismutase gene in a patient with pure lower motor neuron signs. To date, 11 mutations involving exon 3 of SOD1 have been described, including the present one. Our data confirm that variable penetrance and predominant lower motor neuron involvement are common characteristics in patients bearing mutations in exon 3 of the SOD1 gene.