1. Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 gene

Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 gene

Andreas Hermann, MD 1 Ulrike Reuner, MD 1 Georg Ziethe, MD 2 Andreas Bräuer 2 Uta Gölnitz, MD 3 Prof. Arndt Rolfs, MD 3, 4 Claudia Ricci, PhD 5
1 University of Technology Dresden 2 St. Marien Hospital Dresden 3 CENTOGENE AG 4 University of Rostock 5 University of Siena
March 30, 2011

Amyotroph Lateral Scler. 2011 Sep

Familial cases of amyotrophic lateral sclerosis are most frequently caused by mutation in the superoxide dismutase-1 (SOD1) gene. We report a heterozygous I113F mutation in a patient with familial ALS characterized by early and predominant bilateral vocal cord paralysis followed by descending spinal cord paresis. Modelling of the mutant SOD1 showed an alteration of the protein secondary structure leading to impaired strength of the dimer interface. This may result in a failure of the protein folding and subsequently generation of toxic intracellular aggregates, suggesting a pathogenic role for the mutation.