Italian scientists map brain to diagnose ALS

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ALS affects the brain and spinal cord, leading to the paralysis and death of patients. Brain image: Shutterstock
09:59 CEST+02:00
As the nerve disease ALS gets global attention, thanks to charity fundraiser the Ice Bucket Challenge, The Local spoke to an Italian brain scientist about how his research can help diagnose patients.

Until recently few people had heard of Amyotrophic lateral sclerosis (ALS), the deadly disease which affects nerves in the brain and spinal cord. But all that changed this summer when campaigners came up with the “Ice Bucket Challenge”, encouraging people to thrown icy water over themselves and donate to the ALS Association.

Celebrities the world over have taken part, including Italian footballer Mario Balotelli and Prime Minister Matteo Renzi.

But while the challenge has had a tremendous impact on the ALS Association, raising $88.5 million (€67.1 million) to date, few stop to learn about the disease, which kills most sufferers within five years of diagnosis.

Marco Pagani, a senior researcher at Rome’s Institute of Cognitive Sciences and Technology, tells The Local tests done in Italy can improve diagnosis and help patients get treatment sooner.

“We were looking for a pattern to distinguish between a normal brain and a brain with ALS. We mapped 90 different regions of the brain and found a pattern of brains with ALS,” he says of his research.

By working with 200 patients in Italy, over three years, Pagani says the Italian study was double the size of any done since the 1980s.

Early symptoms of the disease include muscle weakness and cramping; as it develops ALS leads to paralysis and patients need a permanent ventilator to survive once the breathing muscles are affected.

Having proven that the new method for mapping ALS works, Pagani explains patients can be diagnosed up to months in advance and get treatment as soon a possible. Once people with the disease have been identified, doctors can determine who might develop it in the future.

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“In ten to 15 percent of cases ALS has a genetic origin, meaning it is shared by members of the family,” Pagani says. “Therefore you can ask relatives to undergo tests and see whether they have genetic variants that might favour ALS.”

Although the Italian study has so far only been carried out on patients in the country, the research team will soon start collaborating with a university in Belgium. 

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