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N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: No evidence for disease causation
Author(s) -
Mayeux Véronique,
Corcia Philippe,
Besson Gérard,
JafariSchluep HélèneFarnase,
Briolotti Valérie,
Camu William
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10605
Subject(s) - amyotrophic lateral sclerosis , sod1 , medicine , disease , mutation , degenerative disease , genetics , biology , gene
In a group of 331 sporadic amyotrophic lateral sclerosis (ALS) cases, we identified a new Cu/Zn superoxide dismutase single base substitution, N19S, in two patients. In the first case, seven healthy family members of 15 carried the substitution. Controls (n = 268) and familial ALS index cases (n = 180) were screened and one control subject with N19S was identified. Our data show that, despite a possible role of susceptibility factor for ALS, N19S alone cannot be considered as a direct cause for the disease. Ann Neurol 2003;53:815–818
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