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

@article{Mitchell2010FamilialAL,
  title={Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.},
  author={John R. Mitchell and Praveen Paul and Han-Jou Chen and Alex G. Morris and Miles Payling and Mario Falchi and James Habgood and Stefania Panoutsou and Sabine Winkler and Veronica Tisato and Amin Hajitou and Bradley C. Smith and C. D. Vance and Christopher T. Shaw and Nicholas D Mazarakis and Jacqueline de Belleroche},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2010},
  volume={107 16},
  pages={7556-61}
}
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. Similarly, lentiviral-mediated expression of… CONTINUE READING