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Essential tremor sufferers needed for groundbreaking study

Published: 21 October 2016

You probably know someone who has it. It is the most common movement disorder, yet most people don鈥檛 even know its name.

Essential tremor affects nearly one per cent of the world鈥檚 population, increasing to four per cent of those over 40. The involuntary shaking of hands is the most common symptom, but symptoms can also include shaking of the head and legs.

Often misdiagnosed as Parkinson鈥檚 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 平特五不中 and Kiel University in Germany have led a large international collaborative study that sheds new light on the genetics behind essential tremor, in a 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.

聽鈥淲e have the first clue now, but we want to expand on that because we still have much to learn鈥 says Simon Girard, now a professor at the Universit茅 du Quebec 脿 Chicoutimi and the paper鈥檚 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.

鈥淓ssential tremor is the most common movement disorder, but many sufferers don鈥檛 seek medical help,鈥 he says. 鈥淧eople 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.鈥

Anyone who would like to participate in the study should email ET [dot] Genetics [dot] Rouleaulab [at] gmail [dot] com. 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. 聽

鈥淧eople suffering from essential tremor have a chance to help us better understand this complex disease,鈥 says Guy Rouleau, director of the MNI and the study鈥檚 senior author. 鈥淭he findings will improve the chances of developing drugs to lessen or halt the symptoms, a benefit not only to today鈥檚 sufferers but those of the future.鈥 聽

This study was made possible with funds from Canadian Institutes for Health Research, Canada Research Chair in Genetics of the Nervous System, and Deutsche Forschungsgemeinschaft.

The Montreal Neurological Institute and Hospital

The Montreal Neurological Institute and Hospital 鈥 The Neuro 鈥 is a world-leading destination for brain research and advanced patient care. Since its founding in 1934 by renowned neurosurgeon Dr. Wilder Penfield, The Neuro has grown to be the largest specialized neuroscience research and clinical center in Canada, and one of the largest in the world. The seamless integration of research, patient care, and training of the world鈥檚 top minds make The Neuro uniquely positioned to have a significant impact on the understanding and treatment of nervous system disorders. The Montreal Neurological Institute is a 平特五不中 research and teaching institute. The Montreal Neurological Hospital is part of the Neuroscience Mission of the 平特五不中 Health Centre.

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