A novel L67P SOD1 mutation in an Italian ALS patient

作者：del Grande Alessandra; Luigetti Marco; Conte Amelia; Mancuso Irene; Lattante Serena; Marangi Giuseppe; Stipa Giuseppe; Zollino Marcella; Sabatelli Mario^*

来源：Amyotrophic Lateral Sclerosis, 2011, 12(2): 150-152.

DOI：10.3109/17482968.2011.551939

• Amyotrophic lateral sclerosis
• SOD1
• exon 3
• lower motor neuron

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.

• 出版日期2011-3
• 单位河北医科大学