Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.

We report a unique mutation in the D-amino acid oxidase gene (R199W DAO) associated with classical adult onset familial amyotrophic lateral sclerosis (FALS) in a three generational FALS kindred, after candidate gene screening in a 14.52 cM region on chromosome 12q22-23 linked to disease. Neuronal cell lines expressing R199W DAO showed decreased viability and increased ubiquitinated aggregates compared with cells expressing the wild-type protein.

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia.

Objective: To perform genetic linkage analysis in a family affected with ALS and frontotemporal dementia (FTD).

Methods: The authors performed a genome-wide linkage analysis of a four-generation, 50-member Scandinavian family in which five individuals were diagnosed with ALS and nine with FTD. Linkage calculations assuming autosomal dominant inheritance of a single neurodegenerative disease manifesting as either ALS or FTD with age-dependent penetrance were performed.

A Christian approach to bioethics.

Christian moral insight into complex medical issues depends mostly on beliefs about what it is to be human, what makes for human well-being, and how social attitudes that reinforce such human values can best be strengthened. Issues concerning sex selection are used to illustrate how such beliefs work in practice. To dismiss therapeutic selection as 'playing God' is not helpful.

A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.

Familial amyotrophic lateral sclerosis (FALS) affects 5%-10% of cases of amyotrophic lateral sclerosis (ALS) and is inherited as an autosomal dominant condition with incomplete penetrance. One-fifth of these cases of FALS are associated with mutations in copper/zinc-dependent superoxide dismutase (SOD1), but the gene defect in the remaining 80% of familial cases is, as yet, unknown. We have carried out a preliminary genome screen, using a U.