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Human immunodeficiency virus leukoencephalopathy

MedGen UID:
137894
•Concept ID:
C0338422
•
Disease or Syndrome
Synonyms: HIV - Human immunodeficiency virus leukoencephalopathy; HIV Leukoencephalopathy
SNOMED CT: HIV - Human immunodeficiency virus leukoencephalopathy (230180003); Human immunodeficiency virus leukoencephalopathy (230180003)

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHuman immunodeficiency virus leukoencephalopathy

Professional guidelines

PubMed

Progressive multifocal leukoencephalopathy - epidemiology, immune response, clinical differences, treatment.
Snopková S, Štourač P, Fašaneková L, Mihalčin M, Havlíčková K, Svačinka R, Volfová P, Snopek P, Husa P
Epidemiol Mikrobiol Imunol 2019 Winter;68(1):24-31. PMID: 31181949
HIV-associated opportunistic CNS infections: pathophysiology, diagnosis and treatment.
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
PML diagnostic criteria: consensus statement from the AAN Neuroinfectious Disease Section.
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

Recent clinical studies

Etiology

Progressive Multifocal Leukoencephalopathy Treated by Immune Checkpoint Inhibitors.
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
Progressive multifocal leukoencephalopathy and the spectrum of JC virus-related disease.
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
HIV-associated opportunistic CNS infections: pathophysiology, diagnosis and treatment.
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
Rituximab-associated infections.
Gea-Banacloche JC
Semin Hematol 2010 Apr;47(2):187-98. doi: 10.1053/j.seminhematol.2010.01.002. PMID: 20350666
Progressive multifocal leukoencephalopathy and other disorders caused by JC virus: clinical features and pathogenesis.
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

Progressive multifocal leukoencephalopathy and the spectrum of JC virus-related disease.
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
HIV-associated opportunistic CNS infections: pathophysiology, diagnosis and treatment.
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
White Matter Diseases with Radiologic-Pathologic Correlation.
Sarbu N, Shih RY, Jones RV, Horkayne-Szakaly I, Oleaga L, Smirniotopoulos JG
Radiographics 2016 Sep-Oct;36(5):1426-47. doi: 10.1148/rg.2016160031. PMID: 27618323
PML diagnostic criteria: consensus statement from the AAN Neuroinfectious Disease Section.
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
Progressive multifocal leukoencephalopathy and other disorders caused by JC virus: clinical features and pathogenesis.
Tan CS, Koralnik IJ
Lancet Neurol 2010 Apr;9(4):425-37. doi: 10.1016/S1474-4422(10)70040-5. PMID: 20298966Free PMC Article

Therapy

Progressive Multifocal Leukoencephalopathy Treated by Immune Checkpoint Inhibitors.
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
Progressive multifocal leukoencephalopathy in anti-CD20 and other monoclonal antibody (mAb) therapies used in multiple sclerosis: A review.
Sharma K, Tolaymat S, Yu H, Elkhooly M, Jaiswal S, Jena A, Kakara M, Sriwastava S
J Neurol Sci 2022 Dec 15;443:120459. Epub 2022 Oct 14 doi: 10.1016/j.jns.2022.120459. PMID: 36283150
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J
J Allergy Clin Immunol 2021 Aug;148(2):381-393. Epub 2021 Apr 17 doi: 10.1016/j.jaci.2021.03.045. PMID: 33872655Free PMC Article
Progressive multifocal leukoencephalopathy and the spectrum of JC virus-related disease.
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
Rituximab-associated infections.
Gea-Banacloche JC
Semin Hematol 2010 Apr;47(2):187-98. doi: 10.1053/j.seminhematol.2010.01.002. PMID: 20350666

Prognosis

Infectious leukoencephalopathies.
Jakabek D, Chaganti J, Brew BJ
Handb Clin Neurol 2024;204:431-453. doi: 10.1016/B978-0-323-99209-1.00016-8. PMID: 39322393
Progressive multifocal leukoencephalopathy and the spectrum of JC virus-related disease.
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
Progressive multifocal leukoencephalopathy.
Zhai S, Brew BJ
Handb Clin Neurol 2018;152:123-137. doi: 10.1016/B978-0-444-63849-6.00010-4. PMID: 29604971
Neurosurgery and human immunodeficiency virus in the era of combination antiretroviral therapy: a review.
Henderson D, Sims-Williams HP, Wilhelm T, Sims-Williams H, Bhagani S, Thorne L
J Neurosurg 2017 Mar;126(3):897-907. Epub 2016 Apr 15 doi: 10.3171/2016.1.JNS151194. PMID: 27081898
Progressive multifocal leukoencephalopathy.
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

Progressive Multifocal Leukoencephalopathy: Pathogenesis, Diagnostic Tools, and Potential Biomarkers of Response to Therapy.
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
Progressive Multifocal Leukoencephalopathy Treated by Immune Checkpoint Inhibitors.
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
Neurosurgery and human immunodeficiency virus in the era of combination antiretroviral therapy: a review.
Henderson D, Sims-Williams HP, Wilhelm T, Sims-Williams H, Bhagani S, Thorne L
J Neurosurg 2017 Mar;126(3):897-907. Epub 2016 Apr 15 doi: 10.3171/2016.1.JNS151194. PMID: 27081898
Progressive multifocal leukoencephalopathy.
Weissert R
J Neuroimmunol 2011 Feb;231(1-2):73-7. doi: 10.1016/j.jneuroim.2010.09.021. PMID: 20937530
Chemokines and disease.
Gerard C, Rollins BJ
Nat Immunol 2001 Feb;2(2):108-15. doi: 10.1038/84209. PMID: 11175802

Recent systematic reviews

Drug-Induced Progressive Multifocal Leukoencephalopathy (PML): A Systematic Review and Meta-Analysis.
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
Brain abnormalities in COVID-19 acute/subacute phase: A rapid systematic review.
Egbert AR, Cankurtaran S, Karpiak S
Brain Behav Immun 2020 Oct;89:543-554. Epub 2020 Jul 17 doi: 10.1016/j.bbi.2020.07.014. PMID: 32682993Free PMC Article
Diagnostic Value and Safety of Stereotactic Biopsy in Acquired Immune Deficiency Syndrome Patients with Intracranial Lesions: Systematic Review and Meta-Analysis.
Zhang J, Liu X, Fu K, Xu C, Gong R, Liu L, Guo T, Zhou H, Zhao X, Chen J, Zhang J
World Neurosurg 2017 Feb;98:790-799.e13. Epub 2016 Dec 10 doi: 10.1016/j.wneu.2016.11.151. PMID: 27965075
Immune reconstitution inflammatory syndrome in patients starting antiretroviral therapy for HIV infection: a systematic review and meta-analysis.
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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