We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.
Del Grande, A., Conte, A., Lattante, S., Luigetti, M., Marangi, G., Zollino, M., Madia, F., Bisogni, G., Sabatelli, M., D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation, <<JOURNAL OF THE NEUROLOGICAL SCIENCES>>, 2011; 309 (1-2): 31-33. [doi:10.1016/j.jns.2011.07.041] [http://hdl.handle.net/10807/3659]
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation
Del Grande, Alessandra;Conte, Amelia;Lattante, Serena;Luigetti, Marco;Marangi, Giuseppe;Zollino, Marcella;Madia, Francesca;Bisogni, Giulia;Sabatelli, Mario
2011
Abstract
We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.
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