Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study
dc.contributor.author | Fridman, Vera | |
dc.contributor.author | Sillau, Stefan | |
dc.contributor.author | Bockhorst, Jacob | |
dc.contributor.author | Smith, Kaitlin | |
dc.contributor.author | Moroni, Isabella | |
dc.contributor.author | Pagliano, Emanuela | |
dc.contributor.author | Pisciotta, Chiara | |
dc.contributor.author | Piscosquito, Guiseppe | |
dc.contributor.author | Laurá, Matilde | |
dc.contributor.author | Muntoni, Francesco | |
dc.contributor.author | Bacon, Chelsea | |
dc.contributor.author | Feely, Shawna | |
dc.contributor.author | Grider, Tiffany | |
dc.contributor.author | Gutmann, Laurie | |
dc.contributor.author | Shy, Rosemary | |
dc.contributor.author | Wilcox, Janel | |
dc.contributor.author | Herrmann, David N. | |
dc.contributor.author | Li, Jun | |
dc.contributor.author | Ramchandren, Sindhu | |
dc.contributor.author | Sumner, Charlotte J. | |
dc.contributor.author | Lloyd, Thomas E. | |
dc.contributor.author | Day, John | |
dc.contributor.author | Siskind, Carly E. | |
dc.contributor.author | Yum, Sabrina W. | |
dc.contributor.author | Sadjadi, Reza | |
dc.contributor.author | Finkel, Richard S. | |
dc.contributor.author | Scherer, Steven S. | |
dc.contributor.author | Pareyson, Davide | |
dc.contributor.author | Reilly, Mary M. | |
dc.contributor.author | Shy, Michael E. | |
dc.date.accessioned | 2023-03-03T21:10:43Z | |
dc.date.available | 2024-04-03 16:10:41 | en |
dc.date.available | 2023-03-03T21:10:43Z | |
dc.date.issued | 2023-03 | |
dc.identifier.citation | Fridman, Vera; Sillau, Stefan; Bockhorst, Jacob; Smith, Kaitlin; Moroni, Isabella; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Guiseppe; Laurá, Matilde ; Muntoni, Francesco; Bacon, Chelsea; Feely, Shawna; Grider, Tiffany; Gutmann, Laurie; Shy, Rosemary; Wilcox, Janel; Herrmann, David N.; Li, Jun; Ramchandren, Sindhu; Sumner, Charlotte J.; Lloyd, Thomas E.; Day, John; Siskind, Carly E.; Yum, Sabrina W.; Sadjadi, Reza; Finkel, Richard S.; Scherer, Steven S.; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E. (2023). "Disease Progression in Charcot- Marie- Tooth Disease Related to MPZ Mutations: A Longitudinal Study." Annals of Neurology 93(3): 563-576. | |
dc.identifier.issn | 0364-5134 | |
dc.identifier.issn | 1531-8249 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/175935 | |
dc.publisher | John Wiley & Sons, Inc. | |
dc.title | Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study | |
dc.type | Article | |
dc.rights.robots | IndexNoFollow | |
dc.subject.hlbsecondlevel | Psychiatry | |
dc.subject.hlbtoplevel | Health Sciences | |
dc.description.peerreviewed | Peer Reviewed | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/175935/1/ana26518.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/175935/2/ana26518_am.pdf | |
dc.identifier.doi | 10.1002/ana.26518 | |
dc.identifier.source | Annals of Neurology | |
dc.identifier.citedreference | Pipis M, Feely SME, Polke JM, et al. Natural history of Charcot-Marie-tooth disease type 2A: a large international multicentre study. Brain 2020; 143: 3589 – 3602. | |
dc.identifier.citedreference | Saporta AS, Sottile SL, Miller LJ. et al. Charcot-Marie-tooth disease subtypes and genetic testing strategies. Ann Neurol 2011; 69: 22 – 33. | |
dc.identifier.citedreference | Murphy SM, Laura M, Fawcett K, et al. Charcot-Marie-tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 2012; 83: 706 – 710. | |
dc.identifier.citedreference | Nelis E, Van Broeckhoven C, De Jonghe P, et al. Estimation of the mutation frequencies in Charcot-Marie-tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996; 4: 25 – 33. | |
dc.identifier.citedreference | Callegari I, Gemelli C, Geroldi A, et al. Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype. J Neurol 2019; 266: 2629 – 2645. | |
dc.identifier.citedreference | Shy ME, Jani A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain 2004; 127: 371 – 384. | |
dc.identifier.citedreference | Krajewski KM, Lewis RA, Fuerst DR, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-tooth disease type 1A. Brain 2000; 123 (pt 7 ): 1516 – 1527. | |
dc.identifier.citedreference | Thomas PK, Marques W Jr, Davis MB, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997; 120 (pt 3 ): 465 – 478. | |
dc.identifier.citedreference | Sanmaneechai O, Feely S, Scherer SS, et al. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain 2015; 138: 3180 – 3192. | |
dc.identifier.citedreference | Bird TD, Kraft GH, Lipe HP, et al. Clinical and pathological phenotype of the original family with Charcot-Marie-tooth type 1B: a 20-year study. Ann Neurol 1997; 41: 463 – 469. | |
dc.identifier.citedreference | Brennan KM, Bai Y, Shy ME. Demyelinating CMT—what’s known, what’s new and what’s in store. Neurosci Lett 2015; 596: 14 – 26. | |
dc.identifier.citedreference | Hayasaka K, Himoro M, Sato W, et al. Charcot-Marie-tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 1993; 5: 31 – 34. | |
dc.identifier.citedreference | Volpi VG, Touvier T, D’Antonio M. Endoplasmic reticulum protein quality control failure in myelin disorders. Front Mol Neurosci 2016; 9: 162. | |
dc.identifier.citedreference | Grandis M, Vigo T, Passalacqua M, et al. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet 2008; 17: 1877 – 1889. | |
dc.identifier.citedreference | Xu W, Shy M, Kamholz J, et al. Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. J Cell Biol 2001; 155: 439 – 446. | |
dc.identifier.citedreference | Wrabetz L, D’Antonio M, Pennuto M, et al. Different intracellular pathomechanisms produce diverse myelin protein zero neuropathies in transgenic mice. J Neurosci 2006; 26: 2358 – 2368. | |
dc.identifier.citedreference | Fridman V, Sillau S, Acsadi G, et al. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology 2020; 94: e884 – e896. | |
dc.identifier.citedreference | Shy ME, Blake J, Krajewski K, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005; 64: 1209 – 1214. | |
dc.identifier.citedreference | Sadjadi R, Reilly MM, Shy ME, et al. Psychometrics evaluation of Charcot-Marie-tooth neuropathy score (CMTNSv2) second version, using Rasch analysis. J Peripher Nerv Syst 2014; 19: 192 – 196. | |
dc.identifier.citedreference | Piscosquito G, Reilly MM, Schenone A, et al. Responsiveness of clinical outcome measures in Charcot-Marie-tooth disease. Eur J Neurol 2015; 22: 1556 – 1563. | |
dc.identifier.citedreference | Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980; 103: 259 – 280. | |
dc.identifier.citedreference | Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405 – 424. | |
dc.identifier.citedreference | Bai Y, Ianokova E, Pu Q, et al. Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Arch Neurol 2006; 63: 1787 – 1794. | |
dc.identifier.citedreference | Dacci P, Taroni F, Bella ED, et al. Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy. J Peripher Nerv Syst 2012; 17: 422 – 425. | |
dc.identifier.citedreference | Liu L, Li X, Zi X, et al. Two novel MPZ mutations in Chinese CMT patients. J Peripher Nerv Syst 2013; 18: 256 – 260. | |
dc.identifier.citedreference | De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-tooth phenotype. Brain 1999; 122 (2): 281 – 290. | |
dc.identifier.citedreference | Li J, Bai Y, Ianakova E, et al. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. J Comp Neurol 2006; 498: 252 – 265. | |
dc.identifier.citedreference | Mandarakas MR, Menezes MP, Rose KJ, et al. Development and validation of the Charcot-Marie-tooth disease infant scale. Brain 2018; 141: 3319 – 3330. | |
dc.identifier.citedreference | Burns J, Ouvrier R, Estilow T, et al. Validation of the Charcot-Marie-tooth disease pediatric scale as an outcome measure of disability. Ann Neurol 2012; 71: 642 – 652. | |
dc.identifier.citedreference | Laura M, Milani M, Morbin M, et al. Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. J Neurol Neurosurg Psychiatry 2007; 78: 1263 – 1266. | |
dc.identifier.citedreference | Benedetti S, Previtali SC, Coviello S, et al. Analyzing histopathological features of rare Charcot-Marie-Tooth neuropathies to unravel their pathogenesis. Arch Neurol 2010; 67: 1498 – 1505. | |
dc.identifier.citedreference | Fratta P, Ornaghi F, Dati G, et al. A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. Hum Mol Genet 2019; 28: 124 – 132. | |
dc.identifier.citedreference | Eichinger K, Burns J, Cornett K, et al. The Charcot-Marie-Tooth functional outcome measure (CMT-FOM). Neurology 2018; 91: e1381 – e1384. | |
dc.identifier.citedreference | Graham RC, Hughes RA. A modified peripheral neuropathy scale: the overall neuropathy limitations scale. J Neurol Neurosurg Psychiatry 2006; 77: 973 – 976. | |
dc.identifier.citedreference | Morrow JM, Evans MRB, Grider T, et al. Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A. Neurology 2018; 91: e1125 – e1129. | |
dc.identifier.citedreference | Morrow JM, Sinclair CD, Fischmann A, et al. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Lancet Neurol 2016; 15: 65 – 77. | |
dc.identifier.citedreference | Ramchandren S, Wu TT, Finkel RS, et al. Development and validation of the pediatric Charcot-Marie-Tooth disease quality of life outcome measure. Ann Neurol 2021; 89: 369 – 379. | |
dc.working.doi | NO | en |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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