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

Journal article

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: Wakerley, B; Harman, F; Altmann, D; Malik, O

• Publication status: Published
• Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
• Volume: 18
• Issue: 10
• Pages: 1422-1423
• Publication date: 2011-10-01
• DOI: 10.1016/j.jocn.2011.03.003
• EISSN: 1532-2653
• ISSN: 0967-5868
• Language: English
• Keywords: Humans; Charcot-Marie-Tooth Disease; Optic Neuritis; Middle Aged; Recurrence; Male