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Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia.

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Title: Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia.
Authors: Skvortsova, V. I, Limborska, S. A, Slominsky, P. A, Levitskaya, N. I, Levitsky, G. N, Shadrina, M. I, Kondratyeva, E. A
Source: European Journal of Neurology. Mar2001, Vol. 8 Issue 2, p167-172. 6p.
Subjects: Amyotrophic lateral sclerosis, Genetic mutation, Superoxide dismutase, Genes
Abstract: Twenty blood samples from Russian patients (Moscow) with idiopathic motor neurone disease were analysed for mutations in the Cu,Zn superoxide dismutase (Cu,Zn SOD) gene. Two patients (10%) with the amyotrophic lateral sclerosis (ALS) form of the disease were found to have a disease-related mutation. One patient appears to have autosomal recessive adult-onset ALS associated with homozygosity for D90A and presents the characteristic phenotype of very slowly ascending paresis with both lower and upper motor neurone signs. Another patient, heterozygous for D90A, presents ALS with lumbar onset and rapid progression. This is the first report of a Cu,Zn SOD mutation in ALS in Russia. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia.
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  Data: <searchLink fieldCode="AR" term="%22Skvortsova%2C+V%2E+I%22">Skvortsova, V. I</searchLink><br /><searchLink fieldCode="AR" term="%22Limborska%2C+S%2E+A%22">Limborska, S. A</searchLink><br /><searchLink fieldCode="AR" term="%22Slominsky%2C+P%2E+A%22">Slominsky, P. A</searchLink><br /><searchLink fieldCode="AR" term="%22Levitskaya%2C+N%2E+I%22">Levitskaya, N. I</searchLink><br /><searchLink fieldCode="AR" term="%22Levitsky%2C+G%2E+N%22">Levitsky, G. N</searchLink><br /><searchLink fieldCode="AR" term="%22Shadrina%2C+M%2E+I%22">Shadrina, M. I</searchLink><br /><searchLink fieldCode="AR" term="%22Kondratyeva%2C+E%2E+A%22">Kondratyeva, E. A</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Mar2001, Vol. 8 Issue 2, p167-172. 6p.
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  Data: <searchLink fieldCode="DE" term="%22Amyotrophic+lateral+sclerosis%22">Amyotrophic lateral sclerosis</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Superoxide+dismutase%22">Superoxide dismutase</searchLink><br /><searchLink fieldCode="DE" term="%22Genes%22">Genes</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Twenty blood samples from Russian patients (Moscow) with idiopathic motor neurone disease were analysed for mutations in the Cu,Zn superoxide dismutase (Cu,Zn SOD) gene. Two patients (10%) with the amyotrophic lateral sclerosis (ALS) form of the disease were found to have a disease-related mutation. One patient appears to have autosomal recessive adult-onset ALS associated with homozygosity for D90A and presents the characteristic phenotype of very slowly ascending paresis with both lower and upper motor neurone signs. Another patient, heterozygous for D90A, presents ALS with lumbar onset and rapid progression. This is the first report of a Cu,Zn SOD mutation in ALS in Russia. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1046/j.1468-1331.2001.00186.x
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              Text: Mar2001
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