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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: | a MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK b Department of Clinical Neurophysiology, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK c Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK d Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK e The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK |
| 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. |
| Keywords: | Charcot-Marie-Tooth disease CMT Tonic pupils Myelin protein zero Conduction block |
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