A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis

B Bereznai, A Winkler, GD Borasio, T Gasser - Neuromuscular Disorders, 1997 - Elsevier
We report on an Austrian pedigree with autosomal dominant amyotrophic lateral sclerosis
(ALS), diagnosed in six patients from two generations. The only surviving clinically affected
family member was examined in our ALS clinic. Historical information on other affected
individuals was obtained from knowledgeable family members. The mean±SD age of onset
of the disease was 54±6.9 years, with a range of 43–66 years. The duration of the index
patient's disease until death was 8 months. Using single strand conformational …