Article
Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Sept 2006
Fong Gardian C Y, Kwok Ken H H, Song Y Q, Cheng T S, Ho Philip W L, Chu Andrew C Y, Kung Michelle H W, Chan K H, Mak Windsor, Cheung Raymond T F, Ramsden David B, Ho S L
Abstract excerpt
About 10% of amyotrophic lateral sclerosis (ALS) cases are familial. We identified a five-generation Chinese family with autosomal dominant familial ALS (FALS). We performed a detailed family study, clinical and electromyographic validation, and SOD1, VEGF and CNTF mutation analyses. Forty-five living members (16 affected) were studied and DNA samples collected. Genealogical data were collected for deceased...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.