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The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families
- 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.
- Subjects :
- Adult
Male
Chromosomes, Human, Pair 21
SOD1
Single-nucleotide polymorphism
Biology
Superoxide Dismutase-1
Germany
Genetic variation
Genotype
Humans
Genetic Predisposition to Disease
Genetic Testing
Allele
Family history
Aged
Genetics
Family Health
Superoxide Dismutase
Haplotype
Amyotrophic Lateral Sclerosis
Middle Aged
Neurology
Amino Acid Substitution
Mutation (genetic algorithm)
Mutation
Disease Progression
Female
Neurology (clinical)
Subjects
Details
- ISSN :
- 14321459
- Volume :
- 257
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- Journal of neurology
- Accession number :
- edsair.doi.dedup.....6b1bdf4a206a678a24c1d75a7b40ddb5