Peripheral Neuropathy and the Ceruloplasmin Gene
Authors: Marc C. Hines, Herbert L. Bonkovsky, Sean R. Rudnick, Justin T. Mhoon
Journal: Annals of Internal Medicine (2018)

Letters19 June 2018Peripheral Neuropathy and the Ceruloplasmin GeneMarc C. Hines Jr., MD, Herbert L. Bonkovsky, MD, Sean R. Rudnick, MD, and Justin T. Mhoon, MDMarc C. Hines Jr., MDWake Forest University School of Medicine, Winston-Salem, North Carolina (M.C.H., H.L.B., S.R.R.)Search for more papers by this author, Herbert L. Bonkovsky, MDWake Forest University School of Medicine, Winston-Salem, North Carolina (M.C.H., H.L.B., S.R.R.)Search for more papers by this author, Sean R. Rudnick, MDWake Forest University School of Medicine, Winston-Salem, North Carolina (M.C.H., H.L.B., S.R.R.)Search for more papers by this author, and Justin T. Mhoon, MDDuke University School of Medicine, Durham, North Carolina (J.T.M.)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/L17-0621 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: Ceruloplasmin is a copper-carrying ferroxidase that facilitates the cellular efflux of iron. A deficiency in ceruloplasmin can lead to accumulation of iron in the liver, pancreas, brain, and eyes. Clinical manifestations of this condition include diabetes mellitus, central nervous system sequelae, and retinal degeneration. Newer research suggests that ceruloplasmin also has effects that are independent of its role in iron metabolism.Objective: To show how this newer information may affect our understanding of clinical issues in patients with ceruloplasmin deficiencies.Case Report: A 54-year-old white man presented with a 6- to 12-month history of fatigue, cramping of the right ...References1. Maltais D, Desroches D, Aouffen M, Mateescu MA, Wang R, Paquin J. The blue copper ceruloplasmin induces aggregation of newly differentiated neurons: a potential modulator of nervous system organization. Neuroscience. 2003;121:73-82. [PMID: 12946701] CrossrefMedlineGoogle Scholar2. Wang R, Zhang L, Mateescu MA, Nadeau R. Ceruloplasmin: an endogenous depolarizing factor in neurons? Biochem Biophys Res Commun. 1995;207:599-605. [PMID: 7864849] CrossrefMedlineGoogle Scholar3. Conley L, Geurs TL, Levin LA. Transcriptional regulation of ceruloplasmin by an IL-6 response element pathway. Brain Res Mol Brain Res. 2005;139:235-41. [PMID: 15979198] CrossrefMedlineGoogle Scholar4. Levin LA, Geszvain KM. Expression of ceruloplasmin in the retina: induction after optic nerve crush. Invest Ophthalmol Vis Sci. 1998;39:157-63. [PMID: 9430557] MedlineGoogle Scholar5. Mateescu MA, Chahine R, Roger S, Atanasiu R, Yamaguchi N, Lalumière G, et al. Protection of myocardial tissue against deleterious effects of oxygen free radicals by ceruloplasmin. Arzneimittelforschung. 1995;45:476-80. [PMID: 7779145] MedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Wake Forest University School of Medicine, Winston-Salem, North Carolina (M.C.H., H.L.B., S.R.R.)Duke University School of Medicine, Durham, North Carolina (J.T.M.)Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L17-0621. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoPeripheral Neuropathy and the Ceruloplasmin Gene Hani Kushlaf Metrics Cited byEmerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) DisordersEffects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reportsPeripheral Neuropathy and the Ceruloplasmin GeneHani Kushlaf, MD 19 June 2018Volume 168, Issue 12Page: 894-895KeywordsAllelesBrainFatty liverGenetic testingMagnetic resonance imagingNervesPeripheral nervous systemPeripheral neuropathySteatosisThorax ePublished: 27 February 2018 Issue Published: 19 June 2018 Copyright & PermissionsCopyright © 2018 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...