A novel SOD1 gene mutation in familial ALS with low penetrance in females

We identified a novel missense mutation in the Cu/Zn superoxide dismutase g ene in a family with amyotrophic lateral sclerosis (ALS). The mutation was a transition of T to C, resulting in a substitution of leucine 126 to serin e in exon 5. The family had very unique clinical features of extremely mild severity only in the legs of two male patients with onset of 42 and 52 yea rs old, and their mothers did not develop any symptom even after reaching t he age of 80 and carrying the same mutation. The present study suggests tha t there are other factors that delay or prevent the disease. (C) 2001 Elsev ier Science B.V. All rights reserved.