Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Novarino G., Fenstermaker A.G., Zaki M.S., Hofree M., Silhavy J.L., Heiberg A.D., Abdellateef M., Rosti B., Scott E., Mansour L., Masri A., Kayserili H., Al-Aama J.Y., Abdel-Salam G.M., Karminejad A., Kara M., Kara B., Bozorgmehri B., Ben-Omran T., Mojahedi F., Mahmoud I.G., Bouslam N., Bouhouche A., Benomar A., Hanein S., Raymond L., Forlani S., Mascaro M., Selim L., Shehata N., Al-Allawi N., Bindu P.S., Azam M., Gunel M., Caglayan A., Bilguvar K., Tolun A., Issa M.Y., Schroth J., Spencer E.G., Rosti R.O., Akizu N., Vaux K.K., Johansen A., Koh A.A., Megahed H., Durr A., Brice A., Stevanin G., Gabriel S.B., Ideker T., Gleeson J.G.

Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functionally or genetically. The pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and synapse and axon development. Network analysis revealed a host of further candidate genes, of which three were mutated in our cohort. Our analysis links HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.

Science 343:506-511(2014) [PubMed] [Europe PMC]

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again