SOD1 gene mutations in ALS patients from British Columbia, Canada : clinical features, neurophysiology and ethical issues in management

摘要: Two hundred and fifty-four ALS patients from British Columbia, Canada were screened for mutations in the gene encoding enzyme superoxide dismutase type 1 (SOD1). Thirteen (5.1%) carried one of six missense (A4V, G72C, D76Y, D90A, C111Y, I113T). Mutations found both sporadic familial cases. Atypical clinical features delayed diagnosis some The demographic mutation carrying index cases are summarized, compared with those without mutations. phenotypic variability between SOD1 this study is dramatic, even among same This underlines hypothesis that a biologically heterogeneous disorder which genetics, environment ageing all interrelate to form final phenotype.