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An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family member.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology (2013-07-16)
Francesca Trojsi, Giovanni Piccirillo, Cinzia Femiano, Raffaele Damiano, Maria Rosaria Monsurrò
ABSTRACT

We report the first Italian kindred with Familial Amyotrophic Lateral Sclerosis (FALS) due to c.149T>C mutation in the exon 5 of superoxide dismutase-1 (SOD1) gene. The proband was a 49-year-old woman who came to our observation because of an history of progressive limbs weakness and gait impairment. She belonged to a family of 24 affected members. The prevalent phenotype of the affected members was characterized by slowly progressive spinal impairment with proximal distribution of weakness, and bulbar involvement in advanced stages. We briefly reviewed the few previous reports about the same SOD1 mutation and discussed the hypothesis that structural instability of the mutant codon 149 protein may underlie some toxic effects significantly involved in FALS pathogenesis.

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