DMRF-Funded Researchers Discover Possible New Clue in Cervical Dystonia
A DMRF-funded study that was recently published in the medical journal Movement Disorders adds another clue to the genetic basis for cervical dystonia. The results, while preliminary, point to the possibility that problems in sodium channels in neurons may contribute to cervical dystonia. Sodium channels play a role in how neurons conduct electrical signals.
These findings are consistent with existing theories that implicate dysfunction of a sodium channel as a feasible contributor to dystonia. Prior studies have pointed to additional protein channels as having a role in specific manifestations of dystonia—for example recently identified mutations in ANO3-DYT23 leading to cranial-cervical dystonia.
The authors recommend that additional study is needed to confirm their findings and make the data publicly available to encourage further analysis.
The DMRF is proud to have supported this important work. We express our gratitude and congratulations to the authors of this paper and very special thanks to the individuals with dystonia and control volunteers who generously took part in this study.
Click the link below to read the abstract:
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.
Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M, Hardy J, Bhatia KP.
Mov Disord. 2013 Nov 13. doi: 10.1002/mds.25732. [Epub ahead of print]