Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
AffiliationDepartment of Molecular Neuroscience, UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. email@example.com
Myelin P0 Protein
MetadataShow full item record
CitationConduction 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.
PublisherNeuromuscular disorders : NMD
JournalNeuromuscular disorders : NMD
AbstractWe 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.
- Genetic epidemiology of Charcot-Marie-Tooth disease.
- Authors: Braathen GJ
- Issue date: 2012
- Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
- Authors: Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME, Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC).
- Issue date: 2015 Nov
- Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation.
- Authors: Young T, Shuey N, Partridge J, Bremner FD, Nicholl DJ
- Issue date: 2013 Feb
- Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene.
- Authors: Stojkovic T, de Seze J, Dubourg O, Arne-Bes MC, Tardieu S, Hache JC, Vermersch P
- Issue date: 2003 Sep
- Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
- Authors: Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G, Study Group for Hereditary Neuropathy in Japan.
- Issue date: 2003 Jan