Inherited neuropathies

Published on August 5, 2014   69 min

Other Talks in the Series: The Genetic Basis of Neurological Disorders

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I'm professor Mary Reilly. I am head of the Peripheral Nerve Section of the MRC Center for Neuromuscular Diseases in the UCL Institute of Neurology, London. And today I'm going to talk about inherited neuropathies.
So the content of this lecture will be divided into two overall portions. The first is to define what I mean by inherited neuropathies. And the second is to show an approach to diagnosis which would encapsulate the clinical features, pathogenesis, and what we understand about inherited neuropathies.
First of all, I'd like to just remind you what we are talking about. We're talking about the peripheral nervous system, which is not the brain or the spinal cord, which is the central nervous system. The peripheral nervous system includes the nerves in the arms and the legs which are divided into motor nerves, which travel from the spinal cord to the muscles and make muscles move, and the sensory nerves where people touch things and the touch sensation or other sensations go from the limbs back up to the spinal cord.
This is a cartoon of a peripheral nerve. As you will see, the nerve contains fascias, and in these fascias there are individual bundles of nerves separated from each other by connective tissue and by blood vessels.
This is an example of a human normal peripheral nerve, which is biopsied from a sural nerve. In this, you can see like the cartoon that we have a number of fascias. And in between the fascias, connective tissue and blood vessels.
This is a higher magnification of the same nerve. And now you begin to see the individual nerve fibers. What you can see is the pain center which is the axon and this is surrounded by the darker staining material which is myelin. These fibers are myelinated nerve fibers. We'll also see some very small myelinated nerve fibers.