The clinical features of amyotrophic lateral sclerosis: diagnosis, natural history and epidemiology

Published on June 30, 2016   33 min
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My name is Kevin Talbot. I am a neurologist at the University of Oxford in United Kingdom and run the Oxford Motor Neuron Disease Care and Research Centre, where we see patients with amyotrophic lateral sclerosis, and other motor neuron disorders. Today, I'm going to talk to you about the clinical features of amyotrophic lateral sclerosis concentrating principally on diagnosis but also touching on natural history and prognosis and also on epidemiology.
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Amyotrophic lateral sclerosis is in essence a neurotic degenerative disease and in that it is in common with Parkinson's and Alzheimer's disease, an age related condition. And you can see from the graph here of the UK population that the condition peaks in incidence in the 70s. The prevalence of the condition is roughly 5 per 100,000, which means that in the United Kingdom there are about 5,000 people living with motor neuron disease at any one time. Throughout the world, it's estimated there may be several 100,000 people with ALS although for much of the world we don't really know the epidemiology. Over the lifetime of an individual, there's roughly a 1 in 400 risk of developing the disease. This is a condition which appears to have a focal onset in the cortical motor neuronal system, that's to say, the system which controls voluntary movement originating at the motorcortex of the brain and descending to the spinal cord. I know that there is much that we don't know about this process. This is a condition that appear to arise in a focal area at then undergoes contiguous spread. Below, you'll see the characteristic ubiquitinated cytoplasmic insoluble aggregates seen at neuropathology which form characteristic structures such as these skein-like inclusions in the middle panel and so-called Bunina bodies in the right-hand panel. And that you will see staining with TDP-43. This is a protein which normally resides in the nucleus, and it's the hallmark protein of amyotrophic lateral sclerosis. And in the disease the protein moves into the cytoplasm where it forms insoluble aggregates and is the major protein constituent of the ubiquitinated inclusions. Approximately, 95%-97% of all patients with ALS of this characteristic pathology, suggesting there are common biological underpinnings for to the disease.
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The clinical features of amyotrophic lateral sclerosis: diagnosis, natural history and epidemiology

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