## Abstract Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial, and the Cu/Zn superoxide dismutase (SOD1) gene mutation accounts for 20% of them. More than 100 SOD1 mutations have been described, some with peculiar phenotypes. Moreover, mutations in the SOD1 gene have been
Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis
β Scribed by Francesca Luisa Conforti; Angela Magariello; Rosalucia Mazzei; Teresa Sprovieri; Alessandra Patitucci; Lucia Crescibene; Loredana Bastone; AnnaLia Gabriele; Massimo Scornaienchi; Tiziana Ferraro; Maria Muglia; Aldo Quattrone
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 53 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We report a patient with autosomalβdominant amyotrophic lateral sclerosis (ALS) and a sequence variation in the __SOD1__ promoter region, located in the conserved TATA box motif (TATAAAβTGTAAA). Functional promoter studies of this variant in an in vitro system showed moderate reduction
Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS) patients in the TARDBP gene encoding TAR DNA binding protein (TDP)-43, the major protein of the ubiquitinated inclusions (UBIs) found in affected motor neurons (MNs). The aim of this study was to further define
## Abstract ## Purpose To determine whether diffusion abnormalities can be observed in nonsymptomatic family members with a known causative Cu/Zn superoxide dismutase mutation (asymptomatic familial amyotrophic lateral sclerosis; AFALS^+SOD1^) in a family with autosomal dominant familial amyotroph