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SOD1-related ALS: what has it told us about motor neuron degeneration? - part 1
Published on May 30, 2022 26 min
Other Talks in the Series: ALS and Other Motor Neuron Disorders
Cognition in ALS and the overlap with frontotemporal dementia (FTD)
- Dr. Thomas Bak
- University of Edinburgh, UK
My name is Professor Dame Pamela Shaw. I'm a professor of neurology and Director of the Sheffield Institute for Translational Neuroscience (SITraN) at the University of Sheffield in the UK. My lecture is going to discuss a form of Motor Neuron Disease or Amyotrophic Lateral Sclerosis (ALS) related to mutations in the SOD1 gene. I'm going to talk about what work on SOD1 gene has told us about motor neuron degeneration.
I have no disclosures relevant to this lecture.
In the lecture, I'm going to cover these six areas. First of all, I'm going to introduce Motor Neuron Disease, which I will summarise as ALS/MND. Next, I will talk about the SOD1 gene and its encoded protein. I will talk about the models that have been generated for SOD1-related ALS/MND. I'll then discuss the mechanisms that we understand about motor neuron injury in the presence of SOD1 mutations. I'll briefly talk about determinants of fast and slow disease progression and in the final section, I will discuss therapeutic approaches for this sub-type of MND, including gene therapy approaches.
By way of introduction, just to remind you, the medical condition of ALS/MND was first described by a French physician known as Jean-Martin Charcot at the Salpêtrière Hospital in Paris, and he described the clinical and pathological features of ALS/MND, as far back as 1869.