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Turkish Journal of Neurology Indexed By
  CuZnSOD Gene Mutation in a Turkish Motor Neuron Disease Family [Turk J Neurol]
Turk J Neurol. 1999; 5(2): 87-91

CuZnSOD Gene Mutation in a Turkish Motor Neuron Disease Family

G. AKMAN DEMİR1, H. A. İDRİSOĞLU1, O. ÇOBAN1, G. SARUHAN DİRESKENELİ2, C. ÖZDEMİR1
1İ.Ü. İstanbul Tıp Fakültesi Nöroloji Anabilim Dalı
2İ.Ü. İstanbul Tıp Fakültesi Fizyoloji Anabilim Dalı

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.

Keywords: Familial motor neuron disease; SOD gene mutation


G. AKMAN DEMİR, H. A. İDRİSOĞLU, O. ÇOBAN, G. SARUHAN DİRESKENELİ, C. ÖZDEMİR. CuZnSOD Gene Mutation in a Turkish Motor Neuron Disease Family. Turk J Neurol. 1999; 5(2): 87-91

Corresponding Author: G. AKMAN DEMİR


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