CuZnSOD Gene Mutation in a Turkish Motor Neuron Disease Family

Abstract

Nearly 5 to 10 % of the cases with motor neuron disease show familial recurrence with anautosomal dominant inheritance. In about 20% of these familial cases, a mutation can be detected in the superoxide dismutase (SOD) gene. Many different mutations have been shown in the SOD gene. In this study a familial motor neuron diseasefamily (F-MND) is presented. In this family with five affected members from three generations, age at onset of disease varies between 25 and 48. Disease courses of the cases are also highly variable; two cases are lost after a rapid course of three years, while there are cases living without much disability for more than 10 years. In two cases disease onset coincided with a recent birth. Genetic analysis revealed G37R-type mutation in theCuZnSOD gene. To our knowledge, this is the first genetic analysis of a F-MND family reported from Turkey. Presence of cases with highly variable age at onset, and clinical course within the same family, suggests that this gene does not carry a positive or negative prognostic value.