Genetic Links Found for Essential Tremor; Patients Needed for Clinical Trial

Genetic Links Found for Essential Tremor; Patients Needed for Clinical Trial

A large genome-wide study discovered a strong association between essential tremor, commonly misdiagnosed as Parkinson’s disease, and a specific gene, and less strong associations with two other genes. This is an important finding for a movement disorder that causes postural and kinetic tremor of the upper extremities, and that can have debilitating consequences.

The study, “Genome-wide association study in essential tremor identifies three new loci,” was published in the journal Brain.

Essential tremor is a “bilateral, largely symmetric postural or kinetic tremor,” a common movement disorder. Essential tremor has a reported prevalence of 0.9 percent, increasing to 4.6 percent in people over the age of 65. The disease is progressive and significant disabilities occur. Hands and arms are predominantly affected, but head, voice and leg tremor also occur.

Essential tremor has less severe health impacts than Parkinson’s, but does get worse over time. The disease has a large genetic component and it is common to see large families with several members affected. However, the underlying genetic mechanism of essential tremor needs more exploration.

Now, a team of researchers at the Montreal Neurological Institute and Hospital of McGill University in Canada and Kiel University in Germany have led a large international collaborative genome-wide association study that included 2,807 essential tremor patients and 6,441 controls of European descent.

The researchers found a strong relationship between essential tremor and the gene STK32B (serine/threonine kinase 32B). A relationship between essential tremor was also observed in two other genes, but to a lesser extent.

The team will now conduct studies in a larger patient group, aiming to better understand the role played by these genes in essential tremor, as well as to discover other genes that are predisposed to the disease. More understanding of the genetic basis of disease may lead to better diagnostic tools and treatments.

“We have the first clue now, but we want to expand on that because we still have much to learn,” Simon Girard, a professor at the Université du Quebec à Chicoutimi and the paper’s lead author, said in a news release.

To follow up this study, the researchers need to examine more than 10,000 individuals with essential tremor. Finding this many participants will be challenge, Girard said, in part because many people with the condition do not seek medical care.

“Essential tremor is the most common movement disorder, but many sufferers don’t seek medical help,” he said. “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.”

People interested in taking part in the study should contact Vessela Zaharieva, the research coordinator, by email at vessela.zaharieva@mcgill.ca.

If they meet the study inclusion criteria, they will be contacted by telephone to answer more questions and may be invited to take part in this important study.

“People suffering from essential tremor have a chance to help us better understand this complex disease,” said 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.”

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Daniela holds a PhD in Clinical Psychology from The University of Edinburgh, United Kingdom, a MSc in Health Psychology and a BSc in Clinical Psychology. Her work has been focused on vulnerability to psychopathology and early identification and intervention in psychosis.

5 comments

  1. Catherine O'Brien says:

    I have Essential Tremor and have since I was in my 20’s but didn’t know what it was until I was in my 60’s affected my face . I just lived with my shaky hands until my family doctor noticed it. I take medication that controls it a bit but not completely. I take Primodone and Propranolol. I would like to participate in a study but I may live too far away . I live in British Columbia.

    • Tim Bossie says:

      That is a long time to go without having any help or treatment! Have you talked with your doctor about a trial near you?

  2. Mary Holland says:

    I have had very slight ET since my late 30’s early 40’s. My mother, grandmother & great grandmother also had it. But last Spring, at 56, my shaking went into overdrive, interfering with my work ability and life activities. I also developed balance and cognitive issues. I went through a battery if tests to rule out Parkinson’s, MS, blocked arterial blood flow to the brain, etc. Everything came back normal. When I asked the neurologist about the balance issues, he said it was because of my sedentary lifestyle. Mind you, he asked no questions about my lifestyle, I am not overweight and am very active. So be for I called him am idiot, I asked him about the cognitive issues. His response was sometimes your brain just doesn’t work right. Obviously, I am no longer a patient of his. My family doctor set up a neuropsychological testing and I did indeed have mild to moderate cognitive impairment not caused by Alzheimer’s or any other disease. I was told that there has been research lately into the link between ET and CI. I am currently waiting for a neurological consult at Strong Memorial Hospital in Rochester, NY and hoping for better answers than I received from the previous “specialist”. Meanwhile, my symptoms of ET are rapidly progressing from just my hands to my arms, legs and voice. The impairment issue has not gotten worse or better.

  3. Casey L Turner says:

    I am 36 and suffer from et. I take propramonol twice daily for it. My tremor started in my hands and now causes my head and upper body to twitch. Tried gebapantin with my meds but only kept me feeling high. I cant hardly use a pen anymore and my dr wont help me.

    • Tim Bossie says:

      We are truly sorry to hear about the problems you are having with your medication and doctor. Coping with parkinsons by yourself is terribly difficult. We at PDNews hope that you are able to find a doctor who can help you.

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