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 confi rm that variable penetrance and predominant lower motor neuron involvement are common characteristics in patients bearing mutations in exon 3 of the SOD1 gene.
Del Grande, A., Luigetti, M., Conte, A., Mancuso, I., Lattante, S., Marangi, G., Zollino, M., Sabatelli, M., Stipa, G., A novel L67P SOD1 mutation in an Italian ALS patient., <<AMYOTROPHIC LATERAL SCLEROSIS>>, 2011; 12 (2): 150-152. [doi:10.3109/17482968.2011.551939] [http://hdl.handle.net/10807/5643]
A novel L67P SOD1 mutation in an Italian ALS patient.
Del Grande, Alessandra;Luigetti, Marco;Conte, Amelia;Mancuso, Irene;Lattante, Serena;Marangi, Giuseppe;Zollino, Marcella;Sabatelli, Mario;
2011
Abstract
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 confi rm that variable penetrance and predominant lower motor neuron involvement are common characteristics in patients bearing mutations in exon 3 of the SOD1 gene.
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