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

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.

• Authors: Sinéad M Murphy, Matilde Laurá, Julian Blake, James Polke, Fion Bremner, Mary M Reilly
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 21 Issue 3 Pg. 223-6 (Mar 2011) ISSN: 1873-2364 [Electronic] England
• PMID: 21256749 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2010 Elsevier B.V. All rights reserved.

Chemical References

• Myelin P0 Protein
• Isoleucine
• Threonine

Topics

• Adult
• Charcot-Marie-Tooth Disease (genetics, pathology, physiopathology)
• Humans
• Isoleucine (genetics)
• Male
• Mutation (genetics)
• Myelin P0 Protein (genetics)
• Neural Conduction (physiology)
• Pupil (physiology)
• Threonine (genetics)