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Progressive multifocal leukoencephalopathy

MedGen UID:
7327
Concept ID:
C0023524
Disease or Syndrome
Synonyms: Encephalitis, JC Polyomavirus; Encephalopathies, JC Polyomavirus; Encephalopathy, JC Polyomavirus; JC Polyomavirus Encephalitis; JC Polyomavirus Encephalopathy; Leukoencephalopathies, Progressive Multifocal; Leukoencephalopathy, Progressive Multifocal; Multifocal Leukoencephalopathies, Progressive; Multifocal Leukoencephalopathy, Progressive; Progressive Multifocal Leukoencephalopathies; Progressive Multifocal Leukoencephalopathy
SNOMED CT: Progressive multifocal leukoencephalopathy (22255007); Multifocal leukoencephalopathy (22255007); PML - Progressive multifocal leukoencephalopathy (22255007); PMLE - Progressive multifocal leukoencephalopathy (22255007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016318
Orphanet: ORPHA217260

Definition

A progressive demyelination within the central nervous system associated with reactivation of a latent JC virus infection. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive multifocal leukoencephalopathy
Follow this link to review classifications for Progressive multifocal leukoencephalopathy in Orphanet.

Professional guidelines

PubMed

Bernard-Valnet R, Koralnik IJ, Du Pasquier R
Ann Neurol 2021 Dec;90(6):865-873. Epub 2021 Sep 7 doi: 10.1002/ana.26198. PMID: 34405435Free PMC Article
Aksamit AJ Jr
Neurol Clin 2021 Feb;39(1):197-207. Epub 2020 Nov 7 doi: 10.1016/j.ncl.2020.09.011. PMID: 33223083
Bowen LN, Smith B, Reich D, Quezado M, Nath A
Nat Rev Neurol 2016 Oct 27;12(11):662-674. doi: 10.1038/nrneurol.2016.149. PMID: 27786246

Recent clinical studies

Etiology

Schweitzer F, Laurent S, Cortese I, Fink GR, Silling S, Skripuletz T, Metz I, Wattjes MP, Warnke C
Neurology 2023 Oct 17;101(16):700-713. Epub 2023 Jul 24 doi: 10.1212/WNL.0000000000207622. PMID: 37487750Free PMC Article
Cortese I, Reich DS, Nath A
Nat Rev Neurol 2021 Jan;17(1):37-51. Epub 2020 Nov 20 doi: 10.1038/s41582-020-00427-y. PMID: 33219338Free PMC Article
Grebenciucova E, Berger JR
Neurol Clin 2018 Nov;36(4):739-750. doi: 10.1016/j.ncl.2018.06.002. PMID: 30366552
Bohra C, Sokol L, Dalia S
Cancer Control 2017 Oct-Dec;24(4):1073274817729901. doi: 10.1177/1073274817729901. PMID: 28975841Free PMC Article
Tan CS, Koralnik IJ
Lancet Neurol 2010 Apr;9(4):425-37. doi: 10.1016/S1474-4422(10)70040-5. PMID: 20298966Free PMC Article

Diagnosis

Rocchi A, Sariyer IK, Berger JR
J Neurovirol 2023 Oct;29(5):524-537. Epub 2023 Sep 2 doi: 10.1007/s13365-023-01164-w. PMID: 37659983
Cortese I, Reich DS, Nath A
Nat Rev Neurol 2021 Jan;17(1):37-51. Epub 2020 Nov 20 doi: 10.1038/s41582-020-00427-y. PMID: 33219338Free PMC Article
Zhai S, Brew BJ
Handb Clin Neurol 2018;152:123-137. doi: 10.1016/B978-0-444-63849-6.00010-4. PMID: 29604971
Alstadhaug KB, Myhr KM, Rinaldo CH
Tidsskr Nor Laegeforen 2017 Dec 12;137(23-24) doi: 10.4045/tidsskr.16.1092. PMID: 29231623
Berger JR, Aksamit AJ, Clifford DB, Davis L, Koralnik IJ, Sejvar JJ, Bartt R, Major EO, Nath A
Neurology 2013 Apr 9;80(15):1430-8. doi: 10.1212/WNL.0b013e31828c2fa1. PMID: 23568998Free PMC Article

Therapy

Cortese I, Reich DS, Nath A
Nat Rev Neurol 2021 Jan;17(1):37-51. Epub 2020 Nov 20 doi: 10.1038/s41582-020-00427-y. PMID: 33219338Free PMC Article
Dunham SR, Schmidt R, Clifford DB
Neurotherapeutics 2020 Jul;17(3):955-965. doi: 10.1007/s13311-020-00848-z. PMID: 32166631Free PMC Article
Zhai S, Brew BJ
Handb Clin Neurol 2018;152:123-137. doi: 10.1016/B978-0-444-63849-6.00010-4. PMID: 29604971
Alstadhaug KB, Myhr KM, Rinaldo CH
Tidsskr Nor Laegeforen 2017 Dec 12;137(23-24) doi: 10.4045/tidsskr.16.1092. PMID: 29231623
Bohra C, Sokol L, Dalia S
Cancer Control 2017 Oct-Dec;24(4):1073274817729901. doi: 10.1177/1073274817729901. PMID: 28975841Free PMC Article

Prognosis

Cortese I, Reich DS, Nath A
Nat Rev Neurol 2021 Jan;17(1):37-51. Epub 2020 Nov 20 doi: 10.1038/s41582-020-00427-y. PMID: 33219338Free PMC Article
Loftus EV Jr, Feagan BG, Panaccione R, Colombel JF, Sandborn WJ, Sands BE, Danese S, D'Haens G, Rubin DT, Shafran I, Parfionovas A, Rogers R, Lirio RA, Vermeire S
Aliment Pharmacol Ther 2020 Oct;52(8):1353-1365. Epub 2020 Sep 2 doi: 10.1111/apt.16060. PMID: 32876349Free PMC Article
Zhai S, Brew BJ
Handb Clin Neurol 2018;152:123-137. doi: 10.1016/B978-0-444-63849-6.00010-4. PMID: 29604971
Pruitt AA
Neurol Clin 2014 Nov;32(4):1117-31. Epub 2014 Oct 24 doi: 10.1016/j.ncl.2014.07.009. PMID: 25439297
Aksamit AJ Jr
Continuum (Minneap Minn) 2012 Dec;18(6 Infectious Disease):1374-91. doi: 10.1212/01.CON.0000423852.70641.de. PMID: 23221846

Clinical prediction guides

Schweitzer F, Laurent S, Cortese I, Fink GR, Silling S, Skripuletz T, Metz I, Wattjes MP, Warnke C
Neurology 2023 Oct 17;101(16):700-713. Epub 2023 Jul 24 doi: 10.1212/WNL.0000000000207622. PMID: 37487750Free PMC Article
Boumaza X, Bonneau B, Roos-Weil D, Pinnetti C, Rauer S, Nitsch L, Del Bello A, Jelcic I, Sühs KW, Gasnault J, Goreci Y, Grauer O, Gnanapavan S, Wicklein R, Lambert N, Perpoint T, Beudel M, Clifford D, Sommet A, Cortese I, Martin-Blondel G; Immunotherapy for PML Study Group
Ann Neurol 2023 Feb;93(2):257-270. Epub 2022 Oct 17 doi: 10.1002/ana.26512. PMID: 36151879Free PMC Article
Cortese I, Muranski P, Enose-Akahata Y, Ha SK, Smith B, Monaco M, Ryschkewitsch C, Major EO, Ohayon J, Schindler MK, Beck E, Reoma LB, Jacobson S, Reich DS, Nath A
N Engl J Med 2019 Apr 25;380(17):1597-1605. Epub 2019 Apr 10 doi: 10.1056/NEJMoa1815039. PMID: 30969503
Pruitt AA
Neurol Clin 2014 Nov;32(4):1117-31. Epub 2014 Oct 24 doi: 10.1016/j.ncl.2014.07.009. PMID: 25439297
Berger JR, Major EO
Semin Neurol 1999;19(2):193-200. doi: 10.1055/s-2008-1040837. PMID: 10718540

Recent systematic reviews

Rindi LV, Zaçe D, Braccialarghe N, Massa B, Barchi V, Iannazzo R, Fato I, De Maria F, Kontogiannis D, Malagnino V, Sarmati L, Iannetta M
Drug Saf 2024 Apr;47(4):333-354. Epub 2024 Feb 7 doi: 10.1007/s40264-023-01383-4. PMID: 38321317
McEntire CRS, Fletcher A, Toledano M, Epstein S, White E, Tan CS, Mao-Draayer Y, Banks SA, Aksamit AJ, Gelfand JM, Thakur KT, Anand P, Cortese I, Bhattacharyya S
JAMA Neurol 2023 Jun 1;80(6):624-633. doi: 10.1001/jamaneurol.2023.0841. PMID: 37093609Free PMC Article
Henegar CE, Eudy AM, Kharat V, Hill DD, Bennett D, Haight B
Lupus 2016 May;25(6):617-26. Epub 2016 Jan 6 doi: 10.1177/0961203315622819. PMID: 26743322
Vitaliti G, Matin N, Tabatabaie O, Di Traglia M, Pavone P, Lubrano R, Falsaperla R
Expert Rev Neurother 2015;15(11):1321-41. Epub 2015 Oct 29 doi: 10.1586/14737175.2015.1102061. PMID: 26513633
Müller M, Wandel S, Colebunders R, Attia S, Furrer H, Egger M; IeDEA Southern and Central Africa
Lancet Infect Dis 2010 Apr;10(4):251-61. doi: 10.1016/S1473-3099(10)70026-8. PMID: 20334848Free PMC Article

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