Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

The factors precipitating central nervous system (CNS) demyelination, including optic neuritis, remain largely unknown but are likely to represent a complex interplay between the patient's environment and their genetic background. We report the development of sequential demyelinating optic neuritis in a patient with genetically confirmed Charcot-Marie-Tooth disease type 1A, a hereditary neuropathy. This neuropathy is characterized by duplication of peripheral myelin protein 22 (PMP22), which results in structurally abnormal peripheral myelin. By characterizing peripheral T-cell responses in this patient to a panel of myelin epitopes expressed in the CNS we describe an immunological process which indicates that overexpression of PMP22 may be causative and account for this association.

Original publication

DOI

10.1016/j.jocn.2011.03.003

Type

Journal article

Journal

J Clin Neurosci

Publication Date

10/2011

Volume

18

Pages

1422 - 1423

Keywords

Charcot-Marie-Tooth Disease, Humans, Male, Middle Aged, Optic Neuritis, Recurrence