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Published on: September 22, 2017
Charcot-Marie-Tooth disease associated with recurrent optic neuritis
Benjamin R Wakerley1, Francesca E Harman, Daniel M Altmann
1Department of Neurology, Level 3, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK. benwakerley@fastmail.fm
Summary
Central nervous system (CNS) demyelination, like optic neuritis, is often unknown. In Charcot-Marie-Tooth disease type 1A, peripheral myelin protein 22 (PMP22) overexpression may trigger CNS demyelination via T-cell responses.
Area of Science:
- Neuroimmunology
- Genetics
- Neurology
Background:
- Central nervous system (CNS) demyelination causes conditions like optic neuritis.
- The exact triggers for CNS demyelination are unknown, likely involving genetic and environmental factors.
- Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary neuropathy caused by peripheral myelin protein 22 (PMP22) gene duplication.
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