October 26, 2016
You probably know someone who has it. It is the most
common movement disorder, yet most people don't even know its name.
Often misdiagnosed as Parkinson's disease, essential tremor has less
severe health impacts, but does get worse over time and can have debilitating
consequences. Essential tremor has a large genetic component; it is common to
have large families with several members affected. Until recently, however, the
genetic mechanism behind the disease remained unknown.
Researchers at the Montreal Neurological Institute and
Hospital of McGill University and Kiel University in Germany have led a large
international collaborative study that sheds new light on the genetics behind
essential tremor, in a paper published in Brain journal on Oct. 21,
2016. It is the largest study on essential tremor to date.
Studying a group of 2,809 patients, the researchers
found a strong correlation between essential tremor and a gene known as STK32B.
They also found two other genes correlated to a lesser extent with the disease.
Now they plan to test even more patients to understand how these genes may
contribute to the development of the disease and find other predisposing genes.
"We have the first clue now, but we want to
expand on that because we still have much to learn" says Simon Girard, now
a professor at the Université du Quebec à Chicoutimi and the paper's lead
author.
Ideally to follow up this study the team needs to
recruit 10,000 additional essential tremor sufferers. These new subjects would
be studied to identify new genes that predispose individuals to essential
tremor. Once there is a more complete understanding of the genetic basis of
essential tremor, scientists will be in a position to better understand the
roles these genes play in the disease, and devise better diagnostic tools and
treatments.
Girard says recruiting the large number of patients
needed will be a challenge, in part because many sufferers do not seek medical
care.
"Essential tremor is the most common movement
disorder, but many sufferers don't seek medical help," he says.
"People suffer from the tremor, but they tend to make do as best they can.
Some people have had a tremor for 10-20 years or more. They know they have a
tremor and they live with it."
Anyone who would like to participate in the study
should contact research coordinator Vessela Zaharieva at vessela.zaharieva@mcgill.ca.
If they are found to be eligible, they will be contacted via telephone to
answer more questions and invited to participate in the study if they wish.
"People suffering from essential tremor have a
chance to help us better understand this complex disease," says Guy
Rouleau, director of the MNI and the study's senior author. "The findings
will improve the chances of developing drugs to lessen or halt the symptoms, a
benefit not only to today's sufferers but those of the future."
More information: Stefanie H. Müller et al, Genome-wide association study in essential
tremor identifies three new loci, Brain (2016). DOI: 10.1093/brain/aww242
Journal reference: Brain
Provided by:
McGill
University
http://medicalxpress.com/news/2016-10-essential-tremor-groundbreaking.html
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