Progressive Multifocal Leukoencephalopathy (PML)

Categories: Cancer diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Multifocal Leukoencephalopathy

MalaCards integrated aliases for Progressive Multifocal Leukoencephalopathy:

Name: Progressive Multifocal Leukoencephalopathy 12 74 52 53 58 15 17 32
Leukoencephalopathy, Progressive Multifocal 52 43 71
Pml 12 52 58
Leukoencephalopathy Progressive Multifocal 54
Progressive Multifocal Leukoencephalitis 58


Orphanet epidemiological data:

progressive multifocal leukoencephalopathy
Inheritance: Not applicable; Age of onset: All ages;


Orphanet: 58  
Rare neurological diseases
Rare infectious diseases

External Ids:

Disease Ontology 12 DOID:643
ICD9CM 34 046.3
MeSH 43 D007968
NCIt 49 C26815
SNOMED-CT 67 22255007
ICD10 32 A81.2
MESH via Orphanet 44 D007968
ICD10 via Orphanet 33 A81.2
UMLS via Orphanet 72 C0023524
Orphanet 58 ORPHA217260
UMLS 71 C0023524

Summaries for Progressive Multifocal Leukoencephalopathy

NINDS : 53 Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin--the material that insulates nerve cells (neurons).  Polyomavirus JC (often called JC virus) is carried by a majority of people and is harmless except among those with lowered immune defenses.  The disease is rare and occurs in patients undergoing chronic corticosteroid or immunosuppressive therapy for organ transplant, or individuals with cancer (such as Hodgkin’s disease or lymphoma).  Individuals with autoimmune conditions such as multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosus -- some of whom are treated with biological therapies that allow JC virus reactivation -- are at risk for PML as well.  PML is most common among individuals with HIV-1 infection / acquired immune deficiency syndrome (AIDS).  Studies estimate that prior to effective antiretroviral therapy, as many as 5 percent of persons infected with HIV-1 eventually develop PML that is an AIDS-defining illness.  However, current HIV therapy using antiretroviral drugs (ART), which effectively restores immune system function, allows as many as half of all HIV-PML patients to survive, although they may sometimes have an inflammatory reaction in the regions of the brain affected by PML.  The symptoms of PML are diverse, since they are related to the location and amount of damage in the brain, and may evolve over the course of several weeks to months  The most prominent symptoms are clumsiness; progressive weakness; and visual, speech, and sometimes personality changes.  The progression of deficits leads to life-threatening disability and (frequently) death.  A diagnosis of PML can be made following brain biopsy or by combining observations of a progressive course of the disease, consistent white matter lesions visible on a magnetic resonance imaging (MRI) scan, and the detection of the JC virus in spinal fluid.

MalaCards based summary : Progressive Multifocal Leukoencephalopathy, also known as leukoencephalopathy, progressive multifocal, is related to toxoplasmosis and lymphopenia. An important gene associated with Progressive Multifocal Leukoencephalopathy is ITGA4 (Integrin Subunit Alpha 4), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Natalizumab and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, t cells and kidney, and related phenotypes are immunodeficiency and functional motor deficit

Disease Ontology : 12 A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.

NIH Rare Diseases : 52 Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain . It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system becomes severely weakened. The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer , such as Hodgkin's disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).

Wikipedia : 74 Progressive multifocal leukoencephalopathy (PML) is a rare and often fatal viral disease characterized... more...

Related Diseases for Progressive Multifocal Leukoencephalopathy

Diseases related to Progressive Multifocal Leukoencephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 783)
# Related Disease Score Top Affiliating Genes
1 toxoplasmosis 31.4 TNF STAT1 CD40LG
2 lymphopenia 31.4 RAG1 IL2 ICOSLG CCR6
3 encephalitis 31.1 TNF STAT1 ITGA4 IFNB1 CD40LG
4 acquired immunodeficiency syndrome 31.0 TNF MBP MADCAM1 IL2 CD40LG CD4
5 nervous system disease 31.0 TNF ICOSLG CD4 CCR6
6 central nervous system lymphoma 30.9 TNF IL2 CCR6
7 subacute sclerosing panencephalitis 30.9 TNF MBP IL2
8 agammaglobulinemia 30.9 TNF RAG1 ICOSLG CD40LG
9 pulmonary sarcoidosis 30.9 TNF IL2 CCR6
10 neurosarcoidosis 30.9 TNF CD8A CD4
11 central nervous system disease 30.8 TNF MBP ICOSLG HTR2A CCR6
12 bronchopneumonia 30.8 TNF CD8A CD40LG CD4
13 myasthenia gravis 30.7 TNF MBP IL2 CD40LG
14 relapsing-remitting multiple sclerosis 30.7 TNF MBP ITGA4 IL2 IFNB1 CD40LG
15 facial paralysis 30.6 CD8A CD40LG CD4
16 measles 30.6 TNF STAT1 IL2 IFNB1 CD40LG
17 neuroretinitis 30.6 CD40LG CD4
18 paracoccidioidomycosis 30.6 TNF IL2 CD40LG
19 polyneuropathy 30.5 TNF MBP IGHMBP2 CD40LG
20 respiratory failure 30.5 TNF IGHMBP2 CD40LG CD4 CCR6
21 adult t-cell leukemia 30.5 IL2 CD4 CCR6
22 common variable immunodeficiency 30.5 TNF RAG1 ITGA4 IL2 ICOSLG CD40LG
23 crohn's colitis 30.5 TNF IL2 CCR6
24 t-cell lymphoblastic leukemia/lymphoma 30.4 RAG1 IL2 CD4 CCR6
25 agammaglobulinemia, x-linked 30.4 IL2 ICOSLG CD40LG
26 cytomegalovirus retinitis 30.4 TNF CD8A CD40LG CD4
27 takayasu arteritis 30.4 TNF IL2 CD40LG
28 cryptococcal meningitis 30.4 CD8A CD4 CCR6
29 demyelinating disease 30.4 TNF MBP ITGA4 IL2 IFNB1 ICOSLG
30 immune deficiency disease 30.4 TNF STAT1 RAG1 IL2 IFNB1 ICOSLG
31 autoimmune disease 30.4 TNF PDCD1 MBP IL2 IFNB1 ICOSLG
32 dengue hemorrhagic fever 30.4 TNF STAT1 IFNB1 CD40LG
33 herpes simplex 30.3 TNF STAT1 IFNB1 CD8A
34 tetanus 30.3 TNF MBP IL2 CD40LG
35 rubella 30.3 TNF IL2 IFNB1 CD40LG
36 psoriatic arthritis 30.3 TNF IL2 CD40LG CCR6
37 autoimmune vasculitis 30.3 TNF IL2 CD4 CCR6
38 meningoencephalitis 30.3 TNF MBP CD8A CD40LG CD4 CCR6
39 sarcoidosis 1 30.3 TNF STAT1 IL2 ICOSLG CD8A CD40LG
40 oligodendroglioma 30.3 TNF MBP LINC01194 IL2
41 acute cystitis 30.3 TNF CD40LG CD4 CCR6
42 spondyloarthropathy 1 30.2 TNF ICOSLG CD40LG CCR6
43 crohn's disease 30.2 TNF MADCAM1 ITGA4 IL2 ICOSLG CD4
44 candidiasis 30.2 TNF STAT1 IL2 CD40LG CCR6
45 leukemia, chronic lymphocytic 30.2 TNF STAT1 ITGA4 IL2 ICOSLG CD8A
46 cryptogenic organizing pneumonia 30.2 TNF CD8A CD40LG CD4
47 cholangitis 30.2 TNF MADCAM1 IL2 CD40LG
48 acute disseminated encephalomyelitis 30.2 MBP IFNB1 CD40LG CCR6
49 guillain-barre syndrome 30.1 TNF MBP CD40LG CCR6
50 bell's palsy 30.1 CD8A CD40LG CD4

Graphical network of the top 20 diseases related to Progressive Multifocal Leukoencephalopathy:

Diseases related to Progressive Multifocal Leukoencephalopathy

Symptoms & Phenotypes for Progressive Multifocal Leukoencephalopathy

Human phenotypes related to Progressive Multifocal Leukoencephalopathy:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
2 functional motor deficit 58 31 hallmark (90%) Very frequent (99-80%) HP:0004302
3 cns demyelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0007305
4 abnormality of the cerebrospinal fluid 58 31 hallmark (90%) Very frequent (99-80%) HP:0002921
5 abnormality of the astrocytes 58 31 hallmark (90%) Very frequent (99-80%) HP:0100707
6 abnormality of the oligodendroglia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100706
7 abnormal proportion of cd4-positive t cells 31 hallmark (90%) HP:0031392
8 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
9 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
10 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
11 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
12 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
13 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
14 limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003690
15 decreased proportion of cd8-positive t cells 58 31 frequent (33%) Frequent (79-30%) HP:0005415
16 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
17 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
18 hematological neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004377
19 aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002381
20 oculomotor nerve palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012246
21 personality changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000751
22 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
23 self-neglect 58 31 occasional (7.5%) Occasional (29-5%) HP:0025479
24 homonymous hemianopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0030516
25 seizure 31 occasional (7.5%) HP:0001250
26 paresthesia 58 31 very rare (1%) Very rare (<4-1%) HP:0003401
27 dysmetria 58 31 very rare (1%) Very rare (<4-1%) HP:0001310
28 meningitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001287
29 diplopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000651
30 seizures 58 Occasional (29-5%)
31 neurological speech impairment 58 Frequent (79-30%)
32 visual impairment 58 Frequent (79-30%)
33 cognitive impairment 58 Frequent (79-30%)
34 abnormality of the nervous system 58 Very frequent (99-80%)
35 visual field defect 58 Occasional (29-5%)
36 weakness due to upper motor neuron dysfunction 58 Frequent (79-30%)
37 abnormal proportion of cd4 t cells 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Progressive Multifocal Leukoencephalopathy:

# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 CD4 CD40LG CD8A HIF1A IGHMBP2 IL2
2 cardiovascular system MP:0005385 10.16 CCR6 CD40LG HIF1A IGHMBP2 IL2 ITGA4
3 hematopoietic system MP:0005397 10.13 CCR6 CD4 CD40LG CD8A HIF1A IFNB1
4 endocrine/exocrine gland MP:0005379 10.07 CD4 CD40LG CD8A HIF1A HTR2A IL2
5 immune system MP:0005387 10.07 CCR6 CD4 CD40LG CD8A HIF1A IFNB1
6 digestive/alimentary MP:0005381 10.01 CD4 HIF1A HTR2A IGHMBP2 IL2 RAG1
7 nervous system MP:0003631 9.77 CCR6 CD4 CD40LG CD8A HIF1A IFNB1
8 neoplasm MP:0002006 9.7 HIF1A IFNB1 IL2 PDCD1 RAG1 STAT1
9 normal MP:0002873 9.28 CCR6 CD4 CD8A HIF1A IFNB1 MBP

Drugs & Therapeutics for Progressive Multifocal Leukoencephalopathy

Drugs for Progressive Multifocal Leukoencephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Natalizumab Approved, Investigational Phase 4 189261-10-7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
Interferon beta-1b Approved Phase 4 145155-23-3
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
9 Immunoglobulins Phase 4
10 Antibodies Phase 4
11 Immunologic Factors Phase 4
12 interferons Phase 4
13 Anti-Infective Agents Phase 4
14 Antiviral Agents Phase 4
15 Gastrointestinal Agents Phase 4
16 Methylprednisolone Acetate Phase 4
17 Antineoplastic Agents, Hormonal Phase 4
18 Hormones Phase 4
19 Antiemetics Phase 4
20 Hormone Antagonists Phase 4
21 Neuroprotective Agents Phase 4
22 Protective Agents Phase 4
23 glucocorticoids Phase 4
24 Anti-Inflammatory Agents Phase 4
25 Interferon-beta Phase 4
26 Adjuvants, Immunologic Phase 4
27 rhuMAb Beta7 Phase 3
Zidovudine Approved Phase 2 30516-87-1 35370
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
Zalcitabine Approved, Investigational Phase 2 7481-89-2 24066
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
Lenograstim Approved, Investigational Phase 2 135968-09-1
Didanosine Approved Phase 2 69655-05-6 50599
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
Enfuvirtide Approved, Investigational Phase 2 159519-65-0 16130199
Emtricitabine Approved, Investigational Phase 2 143491-57-0 60877
ofatumumab Approved Phase 2 679818-59-8 6918251
Pembrolizumab Approved Phase 2 1374853-91-4
39 Vedolizumab Approved Phase 2 943609-66-3
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
Mefloquine Approved, Investigational Phase 1, Phase 2 53230-10-7 4046
Tenofovir Experimental, Investigational Phase 2 147127-20-6 464205
43 Anti-HIV Agents Phase 2
44 Reverse Transcriptase Inhibitors Phase 2
45 Antimetabolites Phase 2
46 Anti-Retroviral Agents Phase 2
47 topoisomerase I inhibitors Phase 2
48 Antibodies, Monoclonal Phase 2
49 Antineoplastic Agents, Immunological Phase 2
50 Antirheumatic Agents Phase 2

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Once a Month High-dose Methylprednisolone During Wash-out Period Between Natalizumab and Fingolimod Treatments in Patients With Multiple Sclerosis: a Randomised, Controlled, Double-blind Trial (NTZ2FTY) Unknown status NCT02769689 Phase 4 Methylprednisolone;Placebo;natalizumab (NTZ);fingolimob (FTY)
2 Switching Relapsing Multiple Sclerosis Patients Treated With Natalizumab at Risk for Progressive Multifocal Leukoencephalopathy to Teriflunomide: Is This Safe and Effective? (Sub-study: SWITCH-JCV) Recruiting NCT01970410 Phase 4 teriflunomide
3 Personalized Extended Interval Dosing of Natalizumab in Relapsing Remitting Multiple Sclerosis Recruiting NCT04225312 Phase 4 Personalized extended interval dosing of natalizumab;Standard interval dosing
4 The Impact of a Planned 12-week Dosing Interruption of Natalizumab on Immune Cell Trafficking, Pharmacokinetic (PK)/Pharmacodynamic (PD) Parameters, and Multiple Sclerosis (MS) Disease Stability. Not yet recruiting NCT04048577 Phase 4 Dosing Interruption of Natalizumab
5 High-Dose Corticosteroids for Immune Reconstitution Inflammatory Syndrome in Patients Who Develop Progressive Multifocal Leukoencephalopathy on Natalizumab Terminated NCT01211665 Phase 4 Methylprednisolone;Prednisolone
6 Natalizumab De-escalation to Interferon-beta-1b in Patients With Relapsing-remitting Multiple Sclerosis: A Swiss Multicenter Study Prospective, Controlled, Single-arm, Open-label, Multi-centre, Phase IV Study Terminated NCT01701856 Phase 4 Interferon beta-1b
7 An Open-Label Extension and Safety Monitoring Study of Patients With Moderately to Severely Active Crohn's Disease Previously Enrolled in the Etrolizumab Phase III Protocol GA29144 Recruiting NCT02403323 Phase 3 Etrolizumab
8 Phase III Randomized Study to Investigate the Use of Acalabrutinib in the Treatment of Patients With Early Stage CLL With High Risk of Early Disease Progression Recruiting NCT04178798 Phase 3 Acalabrutinib 100 MG Oral Capsule
9 An Open, Comparative Phase II Study of Immediate Versus Delayed Treatment With Topotecan HCl Given as a Continuous 21-Day Infusion Every 28 Days to Patients With AIDS-Related Progressive Multifocal Leukoencephalopathy Completed NCT00002395 Phase 2 Topotecan
10 A Phase II Multicenter Study Comparing Antiretroviral Therapy Alone to Antiretroviral Therapy Plus Cytosine Arabinoside (Cytarabine; Ara-C) for the Treatment of Progressive Multifocal Leukoencephalopathy (PML) in Human Immunodeficiency Virus (HIV)-Infected Subjects Completed NCT00001048 Phase 2 Filgrastim;Cytarabine;Zidovudine;Zalcitabine;Didanosine
11 Early Intensification of Combination Antiretroviral Therapy Including FUZEON® in the Treatment of Progressive Multifocal Leucoencephalopathy During HIV-1 Infection ANRS 125 Trial Completed NCT00120367 Phase 2 Enfuvirtide;Tenofovir-Emtricitabine
12 A Phase 2, Randomized, Placebo-Controlled, Double-Blind Study to Determine the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of MLN0002 Following Multiple Intravenous Doses in Patients With Ulcerative Colitis Completed NCT01177228 Phase 2 Vedolizumab;Placebo
13 A Double-blind, Randomized, Placebo Controlled, Multicenter, Dose-finding Trial of Ofatumumab in Relapsing Remitting Multiple Sclerosis (RRMS) Patients Completed NCT00640328 Phase 2 Ofatumumab 100;Ofatumumab 300;Ofatumumab 700;Placebo
14 The Effect and Safety of Programmed Cell Death Protein 1 (PD-1) Inhibitor on AIDS Patients With Progressive Multifocal Leukoencephalopathy (PML): A One-center, Single-arm and Prospective Study Recruiting NCT04091932 Phase 2 Pembrolizumab
15 Treatment of Refractory Systemic Lupus Erythematosus by Injection of Allogeneic Mesenchymal Stem Cells Derived From the Umbilical Cord Not yet recruiting NCT03562065 Phase 1, Phase 2
16 Maintenance in Autologous Stem Cell Transplant for Crohn's Disease (MASCT - CD) Suspended NCT03219359 Phase 2 Cyclophosphamide;Cyclophosphamide;Thymoglobulin;Methylprednisolone;Vedolizumab
17 A Randomized, Rater-Blinded Study to Explore the Effect of Mefloquine in Subjects With Progressive Multifocal Leukoencephalopathy (PML) Terminated NCT00746941 Phase 1, Phase 2 mefloquine
18 A Phase 1, Open-Label, Randomized, Parallel Group Study to Compare the Pharmacokinetics of Single Subcutaneous Injections of Vedolizumab Administered in Prefilled Syringe Versus Prefilled Syringe in Autoinjector in Healthy Subjects Completed NCT03961308 Phase 1 Vedolizumab SC
19 A Phase 1, Open-Label, Randomized, Parallel Group Pilot Study to Compare the Pharmacokinetics of Single Subcutaneous Injections of Vedolizumab Administered in Prefilled Syringe Versus Prefilled Syringe in Autoinjector in Healthy Subjects Completed NCT03961295 Phase 1 Vedolizumab SC
20 A Phase 1, Open-Label, Randomized, Parallel Group Study to Compare the Pharmacokinetics of Single Subcutaneous Injections of Vedolizumab Administered in Prefilled Syringe Versus Prefilled Syringe in Needle Safety Device in Healthy Subjects Completed NCT03949621 Phase 1 Vedolizumab SC
21 A Phase 1, Open-Label, Randomized, Parallel Group Pilot Study to Compare the Pharmacokinetics of Single Subcutaneous Injections of Vedolizumab Administered in Prefilled Syringe Versus Prefilled Syringe in Needle Safety Device in Healthy Subjects Completed NCT03948581 Phase 1 Vedolizumab SC
22 Evaluating Nulojix Long-Term Safety in Transplant Unknown status NCT01386359 No Intervention
23 Retrospective Study of the Survival of Patients Suffering From Hiv-related Progressive Multifocal Leukoencephalopathy Completed NCT02895581
24 A Pilot Study of the Efficacy of Recombinant Alpha Interferon (IFN-A2b) and Zidovudine (AZT) in the Treatment of Progressive Multifocal Leukoencephalopathy (PML) Complicating HIV-1 Infection Completed NCT00002270 Interferon alfa-2b;Zidovudine
25 Role of Inflammation in PML Completed NCT01132053
26 A Pilot Study of the Effect of Cidofovir for the Treatment of Progressive Multifocal Leukoencephalopathy (PML) in Subjects With Acquired Immunodeficiency Syndrome (AIDS) Completed NCT00000945 Cidofovir;Probenecid
27 JC Virus Reactivation in Multiple Sclerosis Completed NCT02004444
28 A Pilot Study of Adoptive Cellular Immunotherapy for Progressive Multifocal Leukoencephalopathy With Ex Vivo Generated Polyomavirus-Specific T-cells Completed NCT02694783 Early Phase 1
29 An Open Label Study Regimen of Videx (2',3'-Dideoxyinosine, ddI) in Patients With Acquired Immunodeficiency Syndrome (AIDS) Exhibiting Significant Deterioration While Taking Zidovudine (Retrovir) Completed NCT00002274 Didanosine
30 Do CCR5 Antagonists Improve the Overall Survival of Patients With AIDS-related Progressive Multifocal Leucoencephalopathy? Completed NCT03969550
31 Pharmacokinetic, Immunological and Biochemical Sample Collection and Analysis of a Tysabri Patient Cohort Completed NCT01070719
32 Influence of Host Genetic Factors in Development of PML in an AIDS Cohort Completed NCT00342602
33 Longitudinal Pharmacokinetic, Pharmacodynamic, Immunological, and Biochemical Sample Collection With MRI and Relapse Analysis of a Tysabri Patient Cohort Completed NCT01330498
34 JCV Antibody Program in Patients With Relapsing Multiple Sclerosis Receiving or Considering Treatment With Tysabri: STRATIFY-2 Completed NCT01070836 natalizumab
35 Analysis of Lymphocyte Cell Surface Adhesion Marker Expression in a Natalizumab Treated Population With Active Control Assessment Completed NCT01626248
36 An Observational Study to Evaluate Disease Control, Safety and Immunological Changes in Patients With Relapsing Remitting Multiple Sclerosis (RRMS) Transferred From Previous Treatment With Natalizumab to Fingolimod. Completed NCT02277964
37 WEUSKOP5522: Observational Drug Exposure Registry for Long-Term Follow-Up of Subjects Exposed to GSK2248761 Completed NCT01458132
38 Natural History Study of Progressive Multifocal Leukoencephalopathy (PML) Recruiting NCT01730131
39 Longitudinal Meta-Analysis and Further Sample Collection To Evaluate Potential Host Markers for PML Risk Recruiting NCT02440126
40 The Natural History of Severe Viral Infections and Characterization of Immune Defects Recruiting NCT01011712
41 An Observational Study Utilising Data From the US Tysabri TOUCH Programme and Select EU MS Registries to Estimate the Risk of Progressive Multifocal Leukoencephalopathy (PML) and Other Serious Opportunistic Infections Among Patients Who Were Exposed to an MS Disease Modifying Treatment Prior to Treatment With Tysabri Active, not recruiting NCT03399981
42 Genetic Evaluation of Natalizumab-Treated Patients With Progressive Multifocal Leukoencephalopathy Terminated NCT01211639

Search NIH Clinical Center for Progressive Multifocal Leukoencephalopathy

Cochrane evidence based reviews: leukoencephalopathy, progressive multifocal

Genetic Tests for Progressive Multifocal Leukoencephalopathy

Anatomical Context for Progressive Multifocal Leukoencephalopathy

MalaCards organs/tissues related to Progressive Multifocal Leukoencephalopathy:

Brain, T Cells, Kidney, B Cells, Testes, Liver, Bone

Publications for Progressive Multifocal Leukoencephalopathy

Articles related to Progressive Multifocal Leukoencephalopathy:

(show top 50) (show all 3046)
# Title Authors PMID Year
Demyelination as a complication of new immunomodulatory treatments. 61 54
20442571 2010
Multiple roles for Puralpha in cellular and viral regulation. 54 61
19182532 2009
5-HT2a inhibitors for progressive multifocal leukoencephalopathy: old drugs for an old disease. 61 54
18194091 2008
Antisense therapy of MAdCAM-1 for trinitrobenzenesulfonic acid-induced murine colitis. 54 61
16917232 2006
Novel treatment options for inflammatory bowel disease: targeting alpha 4 integrin. 61 54
16827596 2006
Drug insight: using monoclonal antibodies to treat multiple sclerosis. 54 61
16932490 2005
Progressive multifocal leukoencephalopathy after natalizumab therapy for Crohn's disease. 54 61
15947080 2005
Evidence for involvement of transforming growth factor beta1 signaling pathway in activation of JC virus in human immunodeficiency virus 1-associated progressive multifocal leukoencephalopathy. 54 61
14987161 2004
Myelin degrading activity in the CSF of HIV-1-infected patients with neurological diseases. 61 54
7535576 1994
Archetype JC polyomavirus DNA associated with extracellular vesicles circulates in human plasma samples. 61
32442760 2020
Stabilization of Progressive Multifocal Leukoencephalopathy After Pembrolizumab Treatment. 61
32549952 2020
Sequential interleukin 2 and pembrolizumab use in progressive multifocal leukoencephalopathy. 61
32434801 2020
Progressive multifocal leukoencephalopathy after CAR T therapy. 61
32125605 2020
New OFSEP recommendations for MRI assessment of multiple sclerosis patients: Special consideration for gadolinium deposition and frequent acquisitions. 61
32014494 2020
Four cases of progressive multifocal leukoencephalopathy in iatrogenic immunocompromised patients. 61
32478179 2020
Progressive multifocal leukoencephalopathy in a lung transplant recipient presenting with memory impairment: Case report and literature review. 61
32291834 2020
Long-term safety and effectiveness of natalizumab treatment in clinical practice: 10 years of real-world data from the Tysabri Observational Program (TOP). 61
32234967 2020
Dynamic expression of JC virus in urine and its relationship to serostatus. 61
32135498 2020
Ibrutinib treatment of mantle cell lymphoma complicated by progressive multifocal leukoencephalopathy
. 61
32213285 2020
Progressive multifocal leukoencephalopathy during rituximab maintenance after rituximab and bendamustine treatment for relapsed follicular lymphoma. 61
32556456 2020
Progressive multifocal leukoencephalopathy (PML) following autologous peripheral blood stem cell transplantation for multiple myeloma. 61
32577238 2020
Cerebellar progressive multifocal leukoencephalopathy in a patient with a history of Crohn's disease and acute myeloid leukemia. 61
31863281 2020
Prevention and management of adverse effects of disease modifying treatments in multiple sclerosis. 61
32374570 2020
Which is the best PML risk stratification strategy in natalizumab-treated patients affected by multiple sclerosis? 61
32087593 2020
An evaluation of dimethyl fumarate for the treatment of relapsing remitting multiple sclerosis. 61
32543241 2020
Prevalence of progressive multifocal leukoencephalopathy (PML) in adults and children with systemic lupus erythematosus. 61
32513809 2020
Progressive multifocal leukoencephalopathy in a patient with primary amyloid light-chain amyloidosis. 61
32058201 2020
Progressive multifocal leukoencephalopathy responsive to withdrawal of imatinib in a patient with FIP1L1-PDGFRA positive myeloid neoplasm. 61
32364409 2020
Progressive multifocal leukoencephalopathy and granule cell neuronopathy with novel mutation flanking VP1 C-terminus in natalizumab-extended interval dosing. 61
32198230 2020
Changes in Anti-JCV Antibody Status in a Large Population of Multiple Sclerosis Patients Treated with Natalizumab. 61
32221861 2020
A case report of progressive multifocal leukoencephalopathy during steroid treatment for ANCA-associated renal vasculitis. 61
32388828 2020
Progressive multifocal leukoencephalopathy despite immune recovery in a HIV/HCV co-infected patient. 61
32458280 2020
Application of "Mentzer's PML case definition" to natalizumab-treated patients in the setting of strict MRI-based pharmacovigilance. 61
32385682 2020
Progressive Multifocal Leukoencephalopathy During Tocilizumab Treatment for Rheumatoid Arthritis. 61
32448834 2020
Venetoclax for chronic lymphocytic leukemia associated immune thrombocytopenia following recovery from progressive multifocal leukoencephalopathy. 61
32526595 2020
[Magnetic Resonance Imaging of Multiple Sclerosis]. 61
32381747 2020
Extensive subpial cortical demyelination is specific to multiple sclerosis. 61
31916298 2020
[Progressive Multifocal Leukoencephalopathy Associated with HIV Infection Diagnosed by Brain Biopsy with Repeated Negative PCR Testing of CSF JC Virus DNA]. 61
32381752 2020
Progressive multifocal leukoencephalopathy during treatment with lenalidomide and elotuzumab for multiple myeloma. 61
32420767 2020
Pomalidomide-associated progressive multifocal leukoencephalopathy in multiple myeloma: cortical susceptibility-weighted imaging hypointense findings prior to clinical deterioration. 61
32394398 2020
Progressive multifocal leukoencephalopathy presenting with acute sensorineural hearing loss in an intestinal transplant recipient. 61
32367644 2020
Progressive multifocal leukoencephalopathy in patients with follicular lymphoma treated with bendamustine plus rituximab followed by rituximab maintenance. 61
32150646 2020
High expression of JC polyomavirus-encoded microRNAs in progressive multifocal leukoencephalopathy tissues and its repressive role in virus replication. 61
32324824 2020
Checkpoint inhibitors for the treatment of JC virus-related progressive multifocal leukoencephalopathy. 61
32279025 2020
Insufficient laboratory monitoring and progressive multifocal leukoencephalopathy on fumaric acid ester therapy for psoriasis. 61
32147940 2020
Progressive multifocal leukoencephalopathy in a patient post allo-HCT successfully treated with JC virus specific donor lymphocytes. 61
32316991 2020
Progressive Multifocal Leukoencephalopathy Secondary to Adalimumab. 61
32341263 2020
A Kidney Transplant Recipient With Fulminant Progressive Multifocal Leukoencephalopathy-Immune Reconstitution Inflammatory Syndrome: A Rare Clinical Outcome and Review of the Literature. 61
31580233 2020
Atypical progressive multifocal leukoencephalopathy in a kidney transplant recipient with improving symptoms after immunocompetence recovery. 61
32172266 2020
Complete recovery of late onset progressive multifocal leukoencephalopathy related to treatment with chemoimmunotherapy: A case report. 61
32004701 2020

Variations for Progressive Multifocal Leukoencephalopathy

Expression for Progressive Multifocal Leukoencephalopathy

Search GEO for disease gene expression data for Progressive Multifocal Leukoencephalopathy.

Pathways for Progressive Multifocal Leukoencephalopathy

Pathways related to Progressive Multifocal Leukoencephalopathy according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
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11 11.94 TNF ITGA4 IL2 IFNB1
12 11.9 TNF IL2 CD8A CD4
Show member pathways
11.88 STAT1 IL2 CD8A CD4
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11.84 TNF STAT1 IL2 CD4
15 11.79 TNF ITGA4 CD8A CD4
Show member pathways
11.67 TNF IL2 CD40LG
17 11.59 TNF IL2 IFNB1 CD8A CD4
Show member pathways
11.58 TNF IL2 CD40LG
Show member pathways
11.56 TNF IL2 CD8A
20 11.34 RAG1 CD8A CD40LG CD4
21 11.34 TNF ITGA4 IL2 CD8A CD4 CCR6
23 11.22 PDCD1 IL2 CD8A
24 11.2 TNF IL2 IFNB1 CD4

GO Terms for Progressive Multifocal Leukoencephalopathy

Cellular components related to Progressive Multifocal Leukoencephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.43 TNF MBP ITGA4 CD40LG CD4 CCR6
2 external side of plasma membrane GO:0009897 9.17 TNF PDCD1 ICOSLG CD8A CD40LG CD4

Biological processes related to Progressive Multifocal Leukoencephalopathy according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of kinase activity GO:0033674 9.73 IL2 HTR2A CD4
2 defense response GO:0006952 9.73 TNF STAT1 IFNB1 ICOSLG
3 cytokine-mediated signaling pathway GO:0019221 9.73 TNF STAT1 IL2 IFNB1 HIF1A CD4
4 positive regulation of T cell proliferation GO:0042102 9.71 IL2 CD40LG CD4
5 adaptive immune response GO:0002250 9.7 RAG1 PDCD1 IL2 IFNB1 ICOSLG CD8A
6 T cell costimulation GO:0031295 9.67 PDCD1 ICOSLG CD40LG
7 B cell differentiation GO:0030183 9.67 RAG1 ITGA4 IFNB1 CD40LG
8 T cell activation GO:0042110 9.65 ICOSLG CD8A CD4
9 humoral immune response GO:0006959 9.62 TNF PDCD1 IFNB1 CCR6
10 leukocyte tethering or rolling GO:0050901 9.58 TNF MADCAM1 ITGA4
11 positive regulation of chemokine (C-X-C motif) ligand 2 production GO:2000343 9.57 TNF MBP
12 axonal transport of mitochondrion GO:0019896 9.55 NEFL HIF1A
13 negative regulation of thymocyte apoptotic process GO:0070244 9.52 RAG1 HIF1A
14 axon ensheathment GO:0008366 9.51 POU3F1 MBP
15 regulation of immunoglobulin secretion GO:0051023 9.46 TNF CD40LG
16 regulation of immune response GO:0050776 9.43 PDCD1 MADCAM1 ITGA4 ICOSLG CD8A CD40LG
17 immune response GO:0006955 9.28 TNF RAG1 MBP MADCAM1 IL2 CD8A

Molecular functions related to Progressive Multifocal Leukoencephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.56 TNF IL2 IFNB1 CD40LG
2 identical protein binding GO:0042802 9.56 TNF STAT1 RAG1 NEFL IGHMBP2 ICOSLG
3 coreceptor activity GO:0015026 9.33 ITGA4 CD8A CD4
4 tumor necrosis factor receptor binding GO:0005164 8.8 TNF STAT1 CD40LG

Sources for Progressive Multifocal Leukoencephalopathy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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