title: Charcot-Marie-Tooth disease associated with recurrent optic neuritis.
abstract: 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.
authors.affiliation: Department of Neurology, Level 3, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK. benwakerley@fastmail.fm
authors.forename: Benjamin R
authors.initials: BR
authors.lastname: Wakerley
authors.forename: Francesca E
authors.initials: FE
authors.lastname: Harman
authors.forename: Daniel M
authors.initials: DM
authors.lastname: Altmann
authors.forename: Omar
authors.initials: O
authors.lastname: Malik
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009902:Optic Neuritis / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D012008:Recurrence