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Mechanisms of juvenile forms of ALS caused by FUS mutations

Published on December 31, 2023   35 min

A selection of talks on Neurology

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0:00
Welcome to the talk on FUS mutations and how FUS mutations participate in juvenile forms of Amyotrophic Lateral Sclerosis, ALS. I'm Dr. Luc Dupuis Ph.D., I'm a research director at Inserm in France, at the University of Strasbourg.
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What is the basis of the association between FUS and ALS? This comes from a 2009 paper in Science by Caroline Vance and colleagues in which they found an association between mutations in the gene coding FUS and ALS. These are familial cases of ALS with autosomal dominant inheritance, and you can see, for instance, that all the black symbols are affected individuals. You can appreciate how over several generations the gene mutation co-segregates with the disease and is consistent with the pattern of autosomal inheritance. FUS mutations are almost 100% penetrant, and they lead to a juvenile form of ALS, with some cases that begin across the teenage years.
1:21
The two patterns of FUS mutations are the following. FUS mutations share two features; the first one is illustrated on the left. It's an early onset. The median age at onset for FUS patients is in one's '40s, and most of the ALS patients with the FUS mutation have symptoms of ALS before 50 years of age. This is 10 to 25 years younger than other ALS genes. There are cases with people younger than 25 years of age, including teenage cases. The second characteristic of FUS mutation is the fast progression. About half of the FUS ALS cases progress very fast with early onset and death within 12 months.

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Mechanisms of juvenile forms of ALS caused by FUS mutations

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