Charcot-Marie-Tooth disease associated with recurrent optic neuritis.

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.