Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.

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Authors
Murphy, Sinéad M
Laurá, Matilde
Blake, Julian
Polke, James
Bremner, Fion
Reilly, Mary M
Affiliation
Department of Molecular Neuroscience, UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. sinead.murphy@uclh.nhs.uk
Issue Date
2011-03
MeSH
Adult
Charcot-Marie-Tooth Disease
Humans
Isoleucine
Male
Mutation
Myelin P0 Protein
Neural Conduction
Pupil
Threonine

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Citation
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation. 2011, 21 (3):223-6 Neuromuscul. Disord.
Publisher
Neuromuscular disorders : NMD
Journal
Neuromuscular disorders : NMD
URI
http://hdl.handle.net/10147/254538
DOI
10.1016/j.nmd.2010.12.010
PubMed ID
21256749
Abstract
We report a patient with Charcot-Marie-Tooth disease (CMT) due to the p.Ile112Thr mutation in myelin protein zero (MPZ) who presented with a patchy neuropathy with conduction block and tonic pupils. Conduction block is unusual in inherited neuropathies, while pupil abnormalities are recognised to occur in CMT especially due to MPZ mutations. This case highlights that patchy demyelinating neuropathy with conduction block may occur in p.Ile112Thr MPZ mutations. Involvement of the pupils, as in this case, may be a pointer towards a genetic rather than inflammatory cause of neuropathy.
Item Type
Article
Language
en
ISSN
1873-2364
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