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Genetic mutations that cause body tremors identified

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Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have identified genetic mutations that cause Essential Tremor.

Essential Tremor (ET) is the most common movement disorder which is characterised by an involuntary shaking movement (tremor).

Scientists already knew that mutations in a gene called FUS (Fused in Sarcoma) cause amyotrophic lateral sclerosis (ALS), a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement.

In the new research, the team was successful in identifying mutations that cause ET in this gene, and they also proved that the disease mechanisms for ET and ALS FUS mutations are different.

"As a proof of principle study, we chose one family to sequence and took a simple approach to overcome particular clinical barriers that have hindered previous gene discovery attempts," lead author Dr Nancy Merner said in a statement.

The study was published in The American Journal of Human Genetics.

  

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