Pm. Andersen et al., The geographical and ethnic distribution of the D90A CuZn-SOD mutation in the Russian Federation, AMYOTROPH L, 2(2), 2001, pp. 63-69
Citations number
33
Categorie Soggetti
Neurology
Journal title
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
INTRODUCTION: Mutations in the gene encoding the free radical scavenging en
zyme CuZn-superoxide dismutase have been associated with amyotrophic latera
l sclerosis (ALS). Ninety-eight mutations have been found worldwide in pati
ents with ALS, all but one showing a dominant pattern of inheritance. The e
xception is the D90A mutation which in Finland, northern Norway and norther
n Sweden exists with an allele frequency of 1-2.5% and is in these regions
associated with ALS inherited as a recessive trait. METHODS AND RESULTS. In
this study we searched for the D90A CuZn-SOD mutation in different ethnic
populations of the Russian Federation and found the D90A mutation not only
in locations close to the Scandinavian peninsula but also in remote populat
ions in Asia. CONCLUSION: The finding makes the D90A mutation the most prev
alent CuZn-SOD mutation globally and has implications for interpreting the
recent reports of D90A-heterozygous ALS patients in North America and Europ
e.