AANS Neurosurgeon | Volume 27, Number 1, 2018

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Rare Brain Disease in Children: Major Breakthroughs in Rasmussen’s Encephalitis

Chronic focal encephalitis, or Rasmussen’s encephalitis, is a rare and devastating inflammatory brain disease that can lead to the destruction or removal of a part of the affected child’s brain. Through experiments on humanized mice, a team of researchers from Université de Montréal and the CHU Sainte-Justine and Université de Montréal Hospital (CHUM) research centres has recently proven what scientists had already suspected: the disease is autoimmune, which means that it attacks patients using their own immune system.

“Several treatments have been proposed to slow the progression of the disease in affected children; however, these treatments have produced contradictory results, particularly in the long term,” explains the study’s co-author, Dr. Alexandre Prat, a professor of neuroscience at Université de Montréal and researcher at the Centre de recherche du CHUM. “In addition to shedding light on the autoimmune origins of the disease, we have proven that experimenting on humanized mice allows for a more precise diagnosis. This is especially helpful since there are no biological markers for Rasmussen’s encephalitis, which makes diagnosing it difficult in certain children. These mice could therefore be useful for testing various treatments and determining the best one for each individual patient. We call this ‘personalized’ or ‘precision’ medicine.”

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