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Large scale genetics of neurodegenerative diseases and ALS

Published on March 31, 2024   39 min

A selection of talks on Neurology

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0:00
Hello, I'm Luc Dupuis. I'm an Inserm Research Director in Strasbourg, France, and I will talk to you about how large-scale genetics can be used in neurodegenerative diseases. For this, I will specifically take the example of amyotrophic lateral sclerosis.
0:21
First, what is ALS? ALS is clinically defined. It's defined by the degeneration of two neuronal types. One is the upper motor neurons, which are located in the motor cortex. The degeneration of upper motor neurons leads to hyperreflexia and spasticity. The other cell type that is degenerating is lower motor neurons, which are located in the brain stem and in the spinal cord. The degeneration of lower motor neurons leads to paralysis and muscle weakness. The paralysis that characterizes ALS is progressive, and it leads to death within 3-5 years usually, but it can be shorter for some patients, even six months of disease progression for some patients. It can be much longer for a subset of patients, up to 30 years of progression, very heterogeneous progression. The lifetime risk of ALS is between 1 in 400 and 1 in 800, meaning that one person out of 400 to 800 would die of this disease.
1:38
ALS epidemiology is shows that it is a rare disease. The incidence is 2-5 new cases per 100,000 people per year, which is similar to multiple sclerosis. However, the prevalence, meaning the total number of cases, is lower for multiple sclerosis. This is due to the poor prognosis and the rapid progression of ALS patients. The total prevalence of ALS is 5-10 patients per 100,000 people. It is the third most common neurodegenerative disease after Alzheimer's disease and Parkinson's disease. In France, where I'm based, it actually involves 5,000-8,000 patients. In France, there are more patients dying of ALS than people dying in car accidents every year.

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Large scale genetics of neurodegenerative diseases and ALS

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