2011
DOI: 10.3109/17482968.2011.600316
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Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

Abstract: Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12-23% of patients with a diagnosis of ALS. Here we describe a large ALS Polish family with a branch in France, carrying a G41S mutation in the SOD1, and characterized by an early onset of the disease and extremely short survival time. The mutation has been initially detected in Italian ALS families with common founder effect. However, in the Polish population the G41S mutation most probably originated from an independent mutation event, as… Show more

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Cited by 5 publications
(3 citation statements)
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“…From the mutations with the highest number of representing individuals the L144S was associated with the earliest disease onset and the slowest progression, while the G41S was characterized by a particularly aggressive progression and a short survival, comparable with the phenotype reported for A4V in North American population 34 . Although the number of affected individuals were not sufficient for statistical analysis, based on the clinical observation, the individuals with G37R, N86S, homozygous D90A or G93C mutations presented with a relatively less severe, while A4V, G72S, and S105L with more severe phenotypes (based on time for reaching clinical end-points), similarly to previous reports from other populations 9 , 35 38 . The L126* mutation, previously described as aggressive, showed a highly variable survival in our study, ranging from 36 to 228 months 39 .…”
Section: Discussionsupporting
confidence: 81%
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“…From the mutations with the highest number of representing individuals the L144S was associated with the earliest disease onset and the slowest progression, while the G41S was characterized by a particularly aggressive progression and a short survival, comparable with the phenotype reported for A4V in North American population 34 . Although the number of affected individuals were not sufficient for statistical analysis, based on the clinical observation, the individuals with G37R, N86S, homozygous D90A or G93C mutations presented with a relatively less severe, while A4V, G72S, and S105L with more severe phenotypes (based on time for reaching clinical end-points), similarly to previous reports from other populations 9 , 35 38 . The L126* mutation, previously described as aggressive, showed a highly variable survival in our study, ranging from 36 to 228 months 39 .…”
Section: Discussionsupporting
confidence: 81%
“…Mutation screening and variant analysis. DNA was isolated from peripheral blood leukocytes using standard methods, and all exons with flanking intronic regions of the SOD1 gene were sequenced as described previously 9 .…”
mentioning
confidence: 99%
“…Distinct clinical features can occasionally be correlated with specific SOD1 mutations. For example, a uniform phenotype has been described for the p.G42S mutation [34], associated with an aggressive and rapidly progressive disease [18,[35][36][37][38]. In this case, the clinical picture was characterized by spinal onset with early upper and lower motor neuron involvement, appearance of bulbar signs usually within one year from the onset, and death a few months later.…”
Section: Discussionmentioning
confidence: 81%