Research Highlight: Genetics of Motor Neuron Diseases

ENP researchers Alexis Brice and Giovanni Stevanin recently contributed to a large collaborative study in order to identify genes contributing to hereditary spastic paraplegias. This collaboration discovered 18 previously unknown genes that appear to contribute to these heritable paraplegias. These genes were validated functionally or genetically. A closer look at the function of these genes and their products links them to other neurodegenerative motor neuron diseases, which can facilitate mechanistic understanding of these diseases.

Check out the article for more information:

Novarino G, et al. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science. 31 January 2014. 343: 506-511.

Key words: Genetic diagnosis  Motor neuron disease  Hereditary spastic paraplegia Gene network analysis

 Figure 3 from Novarino et al., Science, 2014.