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

Authors :
Malessa, Rabe
Ansgar, Felbecker
Stefan, Waibel
Peter, Steinbach
Pia, Winter
Ulrich, Müller
Albert C, Ludolph
Source :
Journal of neurology. 257(8)
Publication Year :
2009

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.

Details

ISSN :
14321459
Volume :
257
Issue :
8
Database :
OpenAIRE
Journal :
Journal of neurology
Accession number :
edsair.doi.dedup.....6b1bdf4a206a678a24c1d75a7b40ddb5