Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene

作者：Tortelli Rosanna; Conforti Francesca Luisa^*; Cortese Rosa; D' Errico Eustachio; Distaso Eugenio; Mazzei Rosalucia; Ungaro Carmine; Magariello Angela; Gambardella Antonio; Logroscino Giancarlo; Simone Isabella Laura

来源：Neurobiology of Aging, 2013, 34(6): 1709.e3.

DOI：10.1016/j.neurobiolaging.2012.10.027

• New SOD1 missense mutation
• Genotype-phenotype correlation
• ALS mutation

Copper-zinc superoxide dismutase-1 (SOD1) is the second most common mutated gene in amyotrophic lateral sclerosis (ALS). To date more than 150 missense mutations of SOD1 have been reported. The objective of this study was to describe a novel SOD1 mutation and its phenotypic expression. We describe a 74-year-old Caucasian man who began to complain of progressive weakness and atrophy of the right hand and over 10 months developed a severe tetraparesis, with atrophies of upper and lower limbs and neck muscles, dysphagia, and dyspnea that led to percutaneous endoscopic gastrostomy and tracheotomy. A diagnosis of ALS was made. Genetic analysis identified a heterozygous mutation in exon 4 of SOD1 that results in the amino acid substitution from arginine to cysteine at position 115 (p.R115C). We identified a novel pathogenic SOD1 mutation in a patient with a very rapid disease progression and aggressive phenotype providing additional information on the wide range of SOD1 mutations in apparently sporadic ALS and confirming the possibility of a strong genotype-phenotype correlation for distinct SOD1 mutations.

• 出版日期2013-6