D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation

作者：Del Grande A; Conte A; Lattante S; Luigetti M; Marangi G; Zollino M; Madia F; Bisogni G; Sabatelli M^*

来源：Journal of the Neurological Sciences, 2011, 309(1-2): 31-33.

DOI：10.1016/j.jns.2011.07.041

• Amyotrophic lateral sclerosis
• Cu/Zn SOD1
• Genotype-phenotype correlation

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.

• 出版日期2011-10-15
• 单位河北医科大学