Let all DNA vote: who are the amyotrophic lateral sclerosis candidates?

摘要

Amyotrophic lateral sclerosis (ALS) has familial and sporadic forms that follow a similar clinical course. Mutations in the Cu/Zn superoxide dis-mutase gene (SOD1) have been shown to be a cause of 10 to 20% of cases of familial ALS. In the more common sporadic ALS, SOD1 is not a risk factor. So what else could be mutated in familial ALS or a risk factor for sporadic ALS? One approach is to examine a candidate gene for mutation in familial cases or to look for an increased frequency of a particular nuclcotide change (single nucleotide polymorphism [SNP]) in sporadic ALS. Using this approach in this issue of Neurology, Niemann et al. have chosen to examine the GRIN3B gene, which encodes a motor neuron-specific inhibitory subunit of the NMDA receptor (NR3B).