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43 results for “Leukoencephalopathy”
A more accurate risk biomarkers recognition for Progressive Multifocal Leukoencephalopathy (PML) caused by Polyomavirus JC in patients with multiple sclerosis during treatment with disease-modifying therapies (DMTs): an ongoing clinical challenge.
<p>The therapeutic scenario for the treatment of MS has recently been characterized by a veritable revolution, which has included the introduction, for the first time, of drug treatment guidelines and the entry, in the therapeutic landscape of the last decade, of numerous new drugs that, in varying but significantly relevant ways, have proven capable of modifying the course of the disease (Disease-Modifying Therapies - DMTs). <br> While the arsenal of available drugs has resulted in advances in efficacy and selectivity, it has also exposed them to the danger of side effects, potentially serious and in some cases even fatal. Among the most important side effects, complications of infectious origin, characterized by cases of viral infection/reactivation, as in the case of JCPyV, the etiologic agent of PML, are the most represented. This study, based on the follow-up of MS patients treated with different DMTs, contributes to implementing the data in the literature regarding a greater understanding of the risks related to the administration of these drugs and more appropriate monitoring of MS treatment. The risk of JCPyV reactivation with Fingolimod and Dimethyl fumarate is lower than the risk of viral reactivation associated with natalizumab.<br> In light of the data obtained, it is possible to conclude that, in the case of natalizumab, testing for JC viruria would seem to be more useful in identifying those patients with a JCPyV-specific humoral response that is not yet detectable. In addition, our results, draw attention to the importance of analyzing the NCCR rearrangements of JCPyV. Indeed, the particular rearrangements found in plasma and PBMCs of patients with RRMS treated with natalizumab could represent an alert of neuroinvasiveness in order to detect early those patients with a higher risk of developing PML. In the case of dimethyl fumarate, it seems likely that monitoring of lymphopenia would identify a higher risk group of patients in whom alternative therapy should be sought. Prolonged lymphopenia, with absolute lymphocyte counts less than 750 lymphocytes/mL, might be the major risk factor for PML although, a greater risk might lie in the loss of CD8+ cells that are crucial for JCPyV control.<br> For fingolimod, this strategy cannot be applied because the number of circulating lymphocytes decreases while the actual lymphocyte function appears largely normal therefore, monitoring viruria and viremia along with identification of the neurotrophic variant of the virus seems a more exploitable means for risk stratification.</p> <p>In conclusion, the results of this study can be considered directly transferable to the National Health System in that, both the monitoring of JCPyV reactivation by viruria and the sequence analysis of viral NCCR and host immune set-up could play the role of translatable biomarkers in clinical practice in order to assess the risk of PML onset. In addition to improving risk stratification of this disease, these biomarkers of viral reactivation and pathogenicity could facilitate timely diagnosis, optimizing the use of health care resources and contributing to the reduction of direct and indirect costs of MS disease.</p> <p>Prezioso Carla was supported by the Italian Ministry of Health (Starting Grant: SG-2018-12366194).</p>
Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids
<p><strong>Figure 1:</strong> Family pedigree. The arrow indicates the proband (present patient). Her mother developed a motor disorder at 40 years of age and died at 60 years of age. Her grandparents, father, brothers, sisters, and daughters were not affected.</p> <p><strong>Figure 2: Brain MRI, DWI, DTI, and MRS images. T2/Flair showed multifocal periventricular white matter lesions (A, B, and C), without enhancement (D). DWI shows high-signal intensities in periventricular white matters and corpus callosum (E, F). DTI shows decreased numbers of corpus callosum fibers, while subcortical arcuate fibers are spared (G). MRS shows increased Cho levels, while NAA levels are decreased in the white matter lesions (H, I).</strong></p> <p><strong>Figure 3: </strong>Optic nerves on MRI, showing that bilateral optic nerves are injured (red arrows). </p> <p><strong>Figure 4: </strong>OCT shows that the right peripapillary retinal nerve fiber layer (pRNFL) is atrophic in the temporal quadrant, and the left pRNFL is thinning in the temporal superior quadrants. Green represents pRNFL thickness, which is within normal limits; yellow represents pRNFL thickness, which is below borderline; red represents pRNFL thickness, which is below normal limits.</p> <p><strong>Figure 5:</strong> VEP shows reduced bilateral P100 amplitudes, although P100 latencies are normal in both eyes.</p> <p><strong>Figure 6:</strong> Visual fields in the right eye are partially missing in the upper right, lower right, and lower left quadrants, especially in the lower right quadrant. Visual fields in the left eye are partially missing in the four quadrants, especially in the upper left and lower right quadrants.</p> <p><strong>Figure 7:</strong> Gene analysis of <em>CSF1R</em>. The sequencing result from exon 18 of <em>CSF1R</em> (NM_005211.3) indicates a heterozygous c.2345 G>A (p.782Arg>His) substitution in the patient.</p>
Crizanlizumab for Treatment of Retinal Vasculopathy With Cerebral Leukoencephalopathy (RVCL)
ClinicalTrials.gov study NCT04611880. IPD Sharing: YES. Countries: 1. Publications: 6.
Study to Explore the Effect of Mefloquine in Participants With Progressive Multifocal Leukoencephalopathy (PML)
ClinicalTrials.gov study NCT00746941. IPD Sharing: Not stated. Countries: 5. Publications: 1.
Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids
<p>Figure legends</p> <p>Figure 1: Family pedigree. The arrow indicates the proband (present patient). Her mother developed a motor disorder at 40 years of age and died at 60 years of age. Her grandparents, father, brothers, sisters, and daughters were not affected.</p> <p> </p> <p>Figure 2: Brain MRI, DWI, DTI, and MRS images. T2/Flair showed multifocal periventricular white matter lesions (A, B, and C), without enhancement (D). DWI shows high-signal intensities in periventricular white matters and corpus callosum (E, F). DTI shows decreased numbers of corpus callosum fibers, while subcortical arcuate fibers are spared (G). MRS shows increased Cho levels, while NAA levels are decreased in the white matter lesions (H, I).</p> <p> </p> <p>Figure 3: Optic nerves on MRI, showing that bilateral optic nerves are injured (red arrows).</p> <p> </p> <p>Figure 4: OCT shows that the right peripapillary retinal nerve fiber layer (pRNFL) is atrophic in the temporal quadrant, and the left pRNFL is thinning in the temporal superior quadrants. Green represents pRNFL thickness, which is within normal limits; yellow represents pRNFL thickness, which is below borderline; red represents pRNFL thickness, which is below normal limits.</p> <p> </p> <p>Figure 5: VEP shows reduced bilateral P100 amplitudes, although P100 latencies are normal in both eyes.</p> <p> </p> <p>Figure 6: Visual fields in the right eye are partially missing in the upper right, lower right, and lower left quadrants, especially in the lower right quadrant. Visual fields in the left eye are partially missing in the four quadrants, especially in the upper left and lower right quadrants.</p> <p> </p> <p>Figure 7: Gene analysis of CSF1R. The sequencing result from exon 18 of CSF1R (NM_005211.3) indicates a heterozygous c.2345 G>A (p.782Arg>His) substitution in the patient.</p>
Comparison of Anti HIV Drugs Used Alone or in Combination With Cytosine Arabinoside to Treat Progressive Multifocal Leukoencephalopathy (PML) in HIV-Infected Patients
ClinicalTrials.gov study NCT00001048. IPD Sharing: Not stated. Countries: 1. Publications: 4.
Adoptive Cellular Immunotherapy for Progressive Multifocal Leukoencephalopathy With Ex Vivo Generated Polyomavirus-Specific T-Cells
ClinicalTrials.gov study NCT02694783. IPD Sharing: Not stated. Countries: 1. Publications: 1.
A Study to Evaluate the Use of Cidofovir (an Experimental Drug) for the Treatment of Progressive Multifocal Leukoencephalopathy (PML) in AIDS Patients
ClinicalTrials.gov study NCT00000945. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
ClinicalTrials.gov study NCT04925349. IPD Sharing: UNDECIDED. Countries: 1. Publications: 4.
Research Study on Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
ClinicalTrials.gov study NCT01114815. IPD Sharing: Not stated. Countries: 1. Publications: 4.
Natural History Study of Progressive Multifocal Leukoencephalopathy (PML)
ClinicalTrials.gov study NCT01730131. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Imaging Study of Neurovascular Coupling in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
ClinicalTrials.gov study NCT02071784. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Natural History Study in Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
ClinicalTrials.gov study NCT05020743. IPD Sharing: Not stated. Countries: 6. Publications: 0.
Pembrolizumab in Progressive Multifocal Leukoencephalopathy (PML) in Immunocompromised Patients Without HIV Infection
ClinicalTrials.gov study NCT06276504. IPD Sharing: YES. Countries: 1. Publications: 0.
Genetics of Progressive Multifocal Leukoencephalopathy and Acquired Immunodeficiency Syndrome
ClinicalTrials.gov study NCT00342602. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Cystic leukoencephalopathy without megalencephaly
GEO Series GSE11964. Homo sapiens. 24 samples. Type: Expression profiling by array.
Data from: CSF1R-related leukoencephalopathy: a major player in primary microgliopathies
Since the discovery of CSF1R gene mutations in families with hereditary diffuse leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been identified around the world. Through the analyses of mutation carriers, CSF1R-related leukoencephalopathy has been distinctly characterized clinically, radiologically, and pathologically. Typically, patients present with frontotemporal dementia–like phenotype in their 40s–50s, accompanied by motor symptoms, including pyramidal and extrapyramidal signs. Women tend to develop the clinical symptoms at a younger age than men. On brain imaging, in addition to white matter abnormalities, thinning of the corpus callosum, diffusion-restricted lesions in the white matter, and brain calcifications are hallmarks. Primary axonopathy followed by demyelination was suggested by pathology. Haploinsufficiency of colony-stimulating factor-1 receptor (CSF1R) is evident in a patient with a frameshift mutation, facilitating the establishment of Csf1r haploinsufficient mouse model. These mice develop clinical, radiologic, and pathologic phenotypes consistent with those of human patients with CSF1R mutations. In vitro, perturbation of CSF1R signaling is shown in cultured cells expressing mutant CSF1R. However, the underlying mechanisms by which CSF1R mutations selectively lead to white matter degeneration remains to be elucidated. Given that CSF1R mainly expresses in microglia, CSF1R-related leukoencephalopathy is representative of primary microgliopathies, of which microglia have a pivotal and primary role in pathogenesis. In this review, we address the current knowledge of CSF1R-related leukoencephalopathy and discuss the putative pathophysiology, with a focus on microglia, as well as future research directions.
Data from: NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
[No abstract entered]
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study
ClinicalTrials.gov study NCT05677880. IPD Sharing: YES. Countries: 1. Publications: 0.
Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients
ClinicalTrials.gov study NCT04577170. IPD Sharing: Not stated. Countries: 1. Publications: 0.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.