Conduction block and tonic pupils in CMT caused by a MPZ p.Ile112Thr mutation

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Neuromuscul Disord. 2011 Jan 20. [Epub ahead of print]

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a

myelin protein zero p.Ile112Thr mutation.

SM, Laurá M, Blake J, Polke J, Bremner F, Reilly MM.

MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and

Neurosurgery and Department of Molecular Neuroscience, UCL Institute of

Neurology, 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.