Show simple item record

Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study

dc.contributor.authorFridman, Vera
dc.contributor.authorSillau, Stefan
dc.contributor.authorBockhorst, Jacob
dc.contributor.authorSmith, Kaitlin
dc.contributor.authorMoroni, Isabella
dc.contributor.authorPagliano, Emanuela
dc.contributor.authorPisciotta, Chiara
dc.contributor.authorPiscosquito, Guiseppe
dc.contributor.authorLaurá, Matilde
dc.contributor.authorMuntoni, Francesco
dc.contributor.authorBacon, Chelsea
dc.contributor.authorFeely, Shawna
dc.contributor.authorGrider, Tiffany
dc.contributor.authorGutmann, Laurie
dc.contributor.authorShy, Rosemary
dc.contributor.authorWilcox, Janel
dc.contributor.authorHerrmann, David N.
dc.contributor.authorLi, Jun
dc.contributor.authorRamchandren, Sindhu
dc.contributor.authorSumner, Charlotte J.
dc.contributor.authorLloyd, Thomas E.
dc.contributor.authorDay, John
dc.contributor.authorSiskind, Carly E.
dc.contributor.authorYum, Sabrina W.
dc.contributor.authorSadjadi, Reza
dc.contributor.authorFinkel, Richard S.
dc.contributor.authorScherer, Steven S.
dc.contributor.authorPareyson, Davide
dc.contributor.authorReilly, Mary M.
dc.contributor.authorShy, Michael E.
dc.date.accessioned2023-03-03T21:10:43Z
dc.date.available2024-04-03 16:10:41en
dc.date.available2023-03-03T21:10:43Z
dc.date.issued2023-03
dc.identifier.citationFridman, 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.issn0364-5134
dc.identifier.issn1531-8249
dc.identifier.urihttps://hdl.handle.net/2027.42/175935
dc.publisherJohn Wiley & Sons, Inc.
dc.titleDisease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelPsychiatry
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/175935/1/ana26518.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/175935/2/ana26518_am.pdf
dc.identifier.doi10.1002/ana.26518
dc.identifier.sourceAnnals of Neurology
dc.identifier.citedreferencePipis 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.citedreferenceSaporta AS, Sottile SL, Miller LJ. et al. Charcot-Marie-tooth disease subtypes and genetic testing strategies. Ann Neurol 2011; 69: 22 – 33.
dc.identifier.citedreferenceMurphy 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.citedreferenceNelis 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.citedreferenceCallegari 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.citedreferenceShy ME, Jani A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain 2004; 127: 371 – 384.
dc.identifier.citedreferenceKrajewski 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.citedreferenceThomas 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.citedreferenceSanmaneechai 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.citedreferenceBird 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.citedreferenceBrennan 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.citedreferenceHayasaka 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.citedreferenceVolpi VG, Touvier T, D’Antonio M. Endoplasmic reticulum protein quality control failure in myelin disorders. Front Mol Neurosci 2016; 9: 162.
dc.identifier.citedreferenceGrandis 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.citedreferenceXu 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.citedreferenceWrabetz 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.citedreferenceFridman 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.citedreferenceShy 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.citedreferenceSadjadi 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.citedreferencePiscosquito 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.citedreferenceHarding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980; 103: 259 – 280.
dc.identifier.citedreferenceRichards 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.citedreferenceBai 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.citedreferenceDacci 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.citedreferenceLiu 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.citedreferenceDe 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.citedreferenceLi 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.citedreferenceMandarakas 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.citedreferenceBurns 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.citedreferenceLaura 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.citedreferenceBenedetti 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.citedreferenceFratta 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.citedreferenceEichinger K, Burns J, Cornett K, et al. The Charcot-Marie-Tooth functional outcome measure (CMT-FOM). Neurology 2018; 91: e1381 – e1384.
dc.identifier.citedreferenceGraham RC, Hughes RA. A modified peripheral neuropathy scale: the overall neuropathy limitations scale. J Neurol Neurosurg Psychiatry 2006; 77: 973 – 976.
dc.identifier.citedreferenceMorrow 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.citedreferenceMorrow 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.citedreferenceRamchandren 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.doiNOen
dc.owningcollnameInterdisciplinary and Peer-Reviewed


Files in this item

Show simple item record

Remediation of Harmful Language

The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.

Accessibility

If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.