A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

D90A-SOD1 mediated amyotrophic lateral s

D90A-SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype

✍ Matthew J. Parton; Wendy Broom; Peter M. Andersen; Ammar Al-Chalabi; P. Nigel Le 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 103 KB

More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Uniquely, D90A-SOD1 has been identified in recessive, dominant and apparently sporadic pedigrees. The phe