The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study

Baets, 2011, Genetic spectrum of hereditary neuropathies with onset in the first year of life, Brain, 134, 2664, 10.1093/brain/awr184 Baloh, 2004, Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene), Neurology, 62, 1905, 10.1212/01.WNL.0000125287.98456.23 Benedetti, 2010, Analyzing histopathological features of rare Charcot-Marie-Tooth neuropathies to unravel their pathogenesis, Arch Neurol, 67, 1498, 10.1001/archneurol.2010.303 Bergamin, 2014, Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease, Neuromolecular Med, 16, 540, 10.1007/s12017-014-8307-9 Brennan, 2015, Demyelinating CMT. What’s known, what’s new and what’s in store?, Neurosci Lett, 596, 14, 10.1016/j.neulet.2015.01.059 Boerkoel, 2002, Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation, Ann Neurol, 51, 190, 10.1002/ana.10089 Bort, 1997, Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies, Hum Genet, 99, 746, 10.1007/s004390050442 Briani, 2008, Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy, Muscle Nerve, 38, 921, 10.1002/mus.21062 Brügger, 2015, HDAC1/2-Dependent P0 Expression Maintains Paranodal and Nodal Integrity Independently of Myelin Stability through Interactions with Neurofascins, PLoS Biol, 13, e1002258, 10.1371/journal.pbio.1002258 Burns, 2012, Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability, Ann Neurol, 71, 642, 10.1002/ana.23572 Cartwright, 2009, Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B, Muscle Nerve, 40, 98, 10.1002/mus.21292 Cartwright, 2013, Validity and reliability of nerve and muscle ultrasound, Muscle Nerve, 47, 515, 10.1002/mus.23621 Cartwright, 2013, Nerve cross-sectional area in extremes of age, Muscle Nerve, 47, 890, 10.1002/mus.23718 Cartwright, 2008, Cross-sectional area reference values for nerve ultrasonography, Muscle Nerve, 37, 566, 10.1002/mus.21009 Chapon, 1999, Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene, J Neurol Neurosurg Psychiatry, 66, 779, 10.1136/jnnp.66.6.779 Cornett, 2016, Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease, JAMA Neurol, 73, 645, 10.1001/jamaneurol.2016.0171 De Angelis, 2004, Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene, Neurology, 63, 2180, 10.1212/01.WNL.0000145707.17402.1D de Carvalho Alcântara, 2015, Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A, J Neurol, 262, 1164, 10.1007/s00415-015-7733-4 De Jonghe, 1999, The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype, Brain, 122, 281, 10.1093/brain/122.2.281 Fabrizi, 2006, Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B, Neuromusc Dis, 16, 183, 10.1016/j.nmd.2006.01.006 Fabrizi, 1998, Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases, Muscle Nerve, 21, 869, 10.1002/(SICI)1097-4598(199807)21:7<869::AID-MUS4>3.0.CO;2-4 Fabrizi, 2000, Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero, Acta Neuropathol, 100, 299, 10.1007/s004019900175 Fallerini, 2015, Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology, J Neurol Sci, 359, 409, 10.1016/j.jns.2015.09.377 Fridman, 2015, CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis, J Neurol Neurosurg Psychiatry, 86, 873, 10.1136/jnnp-2014-308826 Gabreëls-Festen, 1996, Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease, Neurology, 47, 761, 10.1212/WNL.47.3.761 Gagliardi, 2017, Palmoplantar Keratoderma and Charcot-Marie-Tooth: combination of two independent genetic diseases? Identification of two point mutations in CMT2 and PPK genes by whole exome sequencing, Br J Dermatol, 177, 284, 10.1111/bjd.15066 Gallardo, 2009, Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family, J Neurol, 256, 2061, 10.1007/s00415-009-5251-y Goedee, 2013, High resolution sonography in the evaluation of the peripheral nervous system in polyneuropathy–a review of the literature, Eur J Neurol, 20, 1342, 10.1111/ene.12182 Goedee, 2015, Distinctive patterns of sonographic nerve enlargement in Charcot-Marie-Tooth type 1A and hereditary neuropathy with pressure palsies, Clin Neurophysiol, 126, 1413, 10.1016/j.clinph.2014.08.026 Grimm, 2014, Ultrasound differentiation of axonal and demyelinating neuropathies, Muscle Nerve, 50, 976, 10.1002/mus.24238 Hanemann, 2001, Axon damage in CMT due to mutation in myelin protein P0, Neuromuscul Disord, 11, 753, 10.1016/S0960-8966(01)00229-2 Hattori, 2003, Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin related proteins (PMP22, MPZ and Cx32): a clinic pathological study of 205 Japanese patients, Brain, 126, 134, 10.1093/brain/awg012 Hayasaka, 1993, Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1, Biochem Biophys Res Commun, 194, 1317, 10.1006/bbrc.1993.1968 Heinemeyer, 1999, Ultrasound of radial, ulnar, median, and sciatic nerves in healthy subjects and patients with hereditary motor and sensory neuropathies, Ultrasound Med Biol, 25, 481, 10.1016/S0301-5629(98)00187-2 Hobson-Webb, 2013, Neuromuscular ultrasound in polyneuropathies and motor neuron disease, Muscle Nerve, 47, 790, 10.1002/mus.23737 Huehne, 2003, Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1, Hum Mutat, 21, 100, 10.1002/humu.9101 Keckarevic-Markovic, 2009, Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients, J Peripher Nerv Syst, 14, 125, 10.1111/j.1529-8027.2009.00222.x Kerasnoudis, 2013, Cross sectional area reference values for sonography of peripheral nerves and brachial plexus, Clin Neurophysiol, 124, 1881, 10.1016/j.clinph.2013.03.007 Kurihara, 2004, Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation, J Neurol Neurosurg Psychiatry, 75, 1492, 10.1136/jnnp.2003.020107 Kurihara, 2002, An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan, Neuroepidemiology, 21, 246, 10.1159/000065643 Lagueny, 1999, Peripheral myelin modification in CMT1B correlates with MPZ gene mutations, Neuromuscul Disord, 9, 361, 10.1016/S0960-8966(99)00031-0 Latour, 1995, Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B, Hum Mutat, 6, 50, 10.1002/humu.1380060110 Laurà, 2007, Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain, J Neurol Neurosurg Psychiatry, 78, 1263, 10.1136/jnnp.2006.112276 Lee, 2005, Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation, J Neurol, 252, 151, 10.1007/s00415-005-0621-6 Liu, 2013, Two novel MPZ mutations in Chinese CMT patients, J Peripher Nerv Syst, 18, 256, 10.1111/jns5.12040 Luigetti, 2016, Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience, Clin Neurol Neurosurg, 144, 67, 10.1016/j.clineuro.2016.03.007 Luigetti, 2010, A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia, Clin Neurol Neurosurg, 112, 794, 10.1016/j.clineuro.2010.05.001 Madrid, 1977, The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsies studies. Part 2. Observation on pathological changes in sural nerve biopsies, J Neurol Sci, 32, 91, 10.1016/0022-510X(77)90042-9 Marchini, 2009, Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy, Neuromuscul Disord, 19, 849, 10.1016/j.nmd.2009.09.004 Marques, 1999, Phenotypic variation of a new P0 mutation in genetically identical twins, J Neurol, 246, 596, 10.1007/s004150050410 Marrosu, 1998, Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene, Neurology, 50, 1397, 10.1212/WNL.50.5.1397 Martinoli, 2002, Sonography of the median nerve in Charcot-Marie-Tooth disease, AJR Am J Roentgenol, 178, 1553, 10.2214/ajr.178.6.1781553 Mathis, 2015, Charcot-Marie-Tooth diseases: an updated and some new proposals for the classification, J Med Genet, 52, 681, 10.1136/jmedgenet-2015-103272 Mazzeo, 2008, Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families, Acta Neurol Scand, 118, 328, 10.1111/j.1600-0404.2008.01021.x Meijerink, 1996, Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies, Ann Neurol, 40, 672, 10.1002/ana.410400418 Merola, 2016, Peripheral Nerve Ultrasonography in Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Multifocal Motor Neuropathy: Correlations with Clinical and Neurophysiological Data, Neurol Res Int, 2016, 9478593, 10.1155/2016/9478593 Mersiyanova, 2000, Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients, Hum Mutat, 15, 340, 10.1002/(SICI)1098-1004(200004)15:4<340::AID-HUMU6>3.0.CO;2-Y Miltenberger-Miltenyi, 2009, Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations, Eur J Hum Genet, 17, 1154, 10.1038/ejhg.2009.29 Misu, 2000, An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val), J Neurol Neurosurg Psychiatry, 69, 806, 10.1136/jnnp.69.6.806 Murphy, 2011, Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease, J Peripher Nerv Syst, 16, 191, 10.1111/j.1529-8027.2011.00350.x Nelis, 1994, Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene, Hum Genet, 94, 653, 10.1007/BF00206959 Noto, 2015, Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease, J Neurol Neurosurg Psychiatry, 86, 378, 10.1136/jnnp-2014-308211 Numakura, 2002, Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations, Hum Mutat, 20, 392, 10.1002/humu.10134 Ohnishi, 1999, Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein, J Neurol Sci, 171, 97, 10.1016/S0022-510X(99)00257-9 Padua, 2012, Intra- and internerve cross-sectional area variability: new ultrasound measures, Muscle Nerve, 45, 730, 10.1002/mus.23252 Pareyson, 1999, Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease, Ann NY Acad Sci, 883, 477, 10.1111/j.1749-6632.1999.tb08615.x Pazzaglia, 2013, Ultrasound assessment of sural nerve in Charcot-Marie-Tooth 1A neuropathy, Clin Neurophysiol, 124, 1695, 10.1016/j.clinph.2013.02.020 Peer, 2008 Rajabally, 2005, Charcot-Marie-Tooth disease due to theThr124Met mutation in the myelin protein zero gene associated with multiple sclerosis, J Peripher Nerv Syst, 10, 388, 10.1111/j.1085-9489.2005.00054.x Rossor, 2016, Recent advances in the genetic neuropathies, Curr Opin Neurol, 29, 537, 10.1097/WCO.0000000000000373 Rouger, 1996, High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients, Am J Hum Genet, 58, 638 Sanmaneechai, 2015, Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene, Brain, 138, 3180, 10.1093/brain/awv241 Saporta, 2011, Charcot-Marie-Tooth disease subtypes and genetic testing strategies, Ann Neurol, 69, 22, 10.1002/ana.22166 Schneider-Gold, 2010, Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero, Muscle Nerve, 41, 550, 10.1002/mus.21523 Schreiber, 2013, Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP, Muscle Nerve, 47, 385, 10.1002/mus.23681 Senderek, 2000, Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible “hotspot” on Thr124Met, Brain Pathol, 10, 235, 10.1111/j.1750-3639.2000.tb00257.x Sghirlanzoni, 1992, HMSN III phenotype due to homozygous expression of a dominant HMSN II gene, Neurology, 42, 2201, 10.1212/WNL.42.11.2201 Shizuka, 1999, A novel mutation of the myelin P(o) gene segregating Charcot-Marie-Toothdisease type 1B manifesting as trigeminal nerve thickening, J Neurol Neurosurg Psychiatry, 67, 250, 10.1136/jnnp.67.2.250a Shy, 2004, Phenotypic clustering in MPZ mutations, Brain, 127, 371, 10.1093/brain/awh048 Silander, 1998, Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies, Hum Mutat, 12, 59, 10.1002/(SICI)1098-1004(1998)12:1<59::AID-HUMU9>3.0.CO;2-A Sorour, 1997, Novel mutation of the myelin P0 gene in a CMT1B family, Hum Mutat, 9, 74, 10.1002/(SICI)1098-1004(1997)9:1<74::AID-HUMU16>3.0.CO;2-M Souayah, 2010, Asymmetric phenotype associated with rare myelin protein zero mutation, J Clin Neuromuscul Dis, 11, 110, 10.1097/CND.0b013e3181c5058a Steck, 2006, Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotype, J Peripher Nerv Syst, 11, 61, 10.1111/j.1085-9489.2006.00064.x Stojkovic, 2003, Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene, Clin Neurophysiol, 114, 1609, 10.1016/S1388-2457(03)00159-7 Sugimoto, 2013, Ultrasonographic nerve enlargement of the median and ulnar nerves and the cervical nerve roots in patients with demyelinating Charcot-Marie-Tooth disease: distinction from patients with chronic inflammatory demyelinating polyneuropathy, J Neurol, 260, 2580, 10.1007/s00415-013-7021-0 Takase, 1990, Hereditary motor and sensory neuropathy type 1 (HMSN1) associated with cranial neuropathy: an autopsy report, Acta Neurol Scand, 82, 363 Tokuda, 2015, Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation, Intern Med, 54, 1919, 10.2169/internalmedicine.54.4259 Triggs, 2006, Case records of the Massachusetts General Hospital. Case 18–2006. A 57-year-old woman with numbness and weakness of the feet and legs, N Engl J Med, 354, 2584, 10.1056/NEJMcpc069009 Warner, 1996, Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination, Neuron, 17, 451, 10.1016/S0896-6273(00)80177-4 Watanabe, 2002, Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation, Neurology, 59, 767, 10.1212/WNL.59.5.767 Weis, 2017, Towards a functional pathology of hereditary neuropathies, Acta Neuropathol, 133, 493, 10.1007/s00401-016-1645-y Yoshihara, 2000, Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease, Hum Mutat, 16, 177, 10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5 Young, 2001, Mutation analysis in Charcot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity, J Neurol, 248, 410, 10.1007/s004150170183 Zaidman, 2009, Peripheral nerve size in normals and patients with polyneuropathy: an ultrasound study, Muscle Nerve, 40, 960, 10.1002/mus.21431 Zaidman, 2013, Ultrasound of inherited vs. acquired demyelinating polyneuropathies, J Neurol, 260, 3115, 10.1007/s00415-013-7123-8