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Peripheral Nervous System (PNS) Myelin Diseases.

Steven S SchererJohn Svaren
Published in: Cold Spring Harbor perspectives in biology (2024)
This is a review of inherited and acquired causes of human demyelinating neuropathies and a subset of disorders that affect axon-Schwann cell interactions. Nearly all inherited demyelinating neuropathies are caused by mutations in genes that are expressed by myelinating Schwann cells, affecting diverse functions in a cell-autonomous manner. The most common acquired demyelinating neuropathies are Guillain-Barré syndrome and chronic, inflammatory demyelinating polyneuropathy, both of which are immune-mediated. An additional group of inherited and acquired disorders affect axon-Schwann cell interactions in the nodal region. Overall, these disorders affect the formation of myelin and its maintenance, with superimposed axonal loss that is clinically important.
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