Article
Genetic analysis of the cystatin C gene in familial and sporadic ALS patients.
Brain research - 16 Feb 2006
Watanabe Mitsunori, Jackson Mandy, Ikeda Masaki, Mizushima Kazuyuki, Amari Masakuni, Takatama Masamitsu, Hirai Shunsaku, Ikeda Yoshio, Shizuka-Ikeda Masami, Okamoto Koichi
Abstract excerpt
Bunina bodies, small eosinophilic intraneuronal inclusions, stain positive for cystatin C and are the only specific pathological hallmark of amyotrophic lateral sclerosis (ALS). We screened the cystatin C gene (CST3) for mutations in 57 sporadic ALS patients and 12 familial ALS cases that did not possess a SOD1 mutation. We detected the known polymorphism in exon 1, a G/A transition at +73, in both familial and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.