Journal of Neurology

, Volume 257, Issue 8, pp 1298–1302

The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families

  • Malessa Rabe
  • Ansgar Felbecker
  • Stefan Waibel
  • Peter Steinbach
  • Pia Winter
  • Albert C. Ludolph
Original Communication

DOI: 10.1007/s00415-010-5512-9

Cite this article as:
Rabe, M., Felbecker, A., Waibel, S. et al. J Neurol (2010) 257: 1298. doi:10.1007/s00415-010-5512-9

Abstract

We screened 217 patients from Germany (n = 213), Austria (n = 2) and Switzerland (n = 2) with a positive family history for amyotrophic lateral sclerosis (ALS) for mutations in the copper/zinc superoxide dismutase (SOD1) gene. We found that 13% of the families tested carried mutations. By analyzing inheritance, we detected a clear-cut co-segregation in 5 of the 28 families; however, in two families with an established mutation, co-segregation was absent. In Germany, the R115G mutation is comparatively frequent and exhibits a specific aggressive phenotype. The L144F mutation, which is the most prevalent mutation in the Balkan countries, and the D90A mutation which is the most frequent SOD1 mutation globally, seem to be the second most common disease-causing mutations in Germany.

Keywords

Amyotrophic lateral sclerosis Genetics Cu/Zn SOD1 Epidemiology 

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Malessa Rabe
    • 1
  • Ansgar Felbecker
    • 1
  • Stefan Waibel
    • 1
  • Peter Steinbach
    • 1
  • Pia Winter
    • 1
  • Albert C. Ludolph
    • 1
  1. 1.Department of NeurologyUniversity of UlmUlmGermany

Personalised recommendations