✦ LIBER ✦

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course

✍ Scribed by Eleni Georgoulopoulou; Cinzia Gellera; Cinzia Bragato; Patrizia Sola; Annalisa Chiari; Chiara Bernabei; Jessica Mandrioli

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 370 KB
Volume: 42
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.21750

No coin nor oath required. For personal study only.

✦ Synopsis

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 described in apparently sporadic ALS cases. We report a new mutation (D11Y) in the Cu/Zn superoxide dismutase gene in a patient with ALS and an unusually slow disease progression. Muscle Nerve, 2010

📜 SIMILAR VOLUMES

Novel G16S (GGC-AGC) mutation in the SOD

Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis

✍ Jun Kawamata; Shun Shimohama; Shin Takano; Kiyoshi Harada; Kunihiro Ueda; Jun Ki 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB 👁 2 views

Abnormally high levels of SOD1 mRNA in a

Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis

✍ Francesca Luisa Conforti; Angela Magariello; Rosalucia Mazzei; Teresa Sprovieri; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB

Analysis of a genetic defect in the TATA

Analysis of a genetic defect in the TATA box of the SOD1 gene in a patient with familial amyotrophic lateral sclerosis

✍ Stephan Niemann; Wendy J. Broom; Robert H. Brown Jr. 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB

## Abstract We report a patient with autosomal‐dominant amyotrophic lateral sclerosis (ALS) and a sequence variation in the __SOD1__ promoter region, located in the conserved TATA box motif (TATAAA→TGTAAA). Functional promoter studies of this variant in an in vitro system showed moderate reduction

Variance of age at onset in a Japanese f

Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel cu/zn superoxide dismutase mutation

✍ Masashi Aoki; Dr Koji Abe; Kouji Houi; Masahito Ogasawara; Yoichi Matsubara; Tak 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 459 KB 👁 1 views