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Journal article

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 ...

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Publication status:
Published

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Publisher copy:
10.1016/j.jocn.2011.03.003

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
Journal:
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
Volume:
18
Issue:
10
Pages:
1422-1423
Publication date:
2011-10-05
DOI:
EISSN:
1532-2653
ISSN:
0967-5868
URN:
uuid:0de78524-539b-44f1-afca-5657b25b57ab
Source identifiers:
479636
Local pid:
pubs:479636

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