Researchers Identify Gene Associated with Primary Cervical Dystonia
A team of researchers including DMRF funding recipients Zbigniew Wszolek MD and Mark LeDoux MD, PhD, and Medical & Scientific Advisory Council member Joel Perlmutter, MD have discovered that a mutation in the CIZ1 gene appears to cause adult onset, primary cervical dystonia. Cervical dystonia is considered the most common primary focal dystonia, and this is the first time a gene mutation has been connected to this form of the disorder.
The CIZ1 gene makes a protein expressed in certain neurons and which seems to be involved in cell cycle activities. The actual mechanism has not yet been identified.
Current treatments for cervical dystonia, such as oral medications and botulinum neurotoxin injections, work by suppressing symptoms but do not actually change the dystonia disease process. Gene discovery is a critical step toward identifying new therapeutic targets that may eventually lead to revolutionary treatments that interrupt or reverse the dystonia mechanism. Gene discovery is also an important step toward improved diagnosis.
Many thanks to the team of researchers who made these findings possible.