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leukoencephalopathies

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https://www.readbyqxmd.com/read/29666464/an-adolescence-onset-male-leukoencephalopathy-with-remarkable-cerebellar-atrophy-and-novel-compound-heterozygous-aars2-gene-mutations-a-case-report
#1
Qing Dong, Ling Long, Yan-Yu Chang, Yan-Jun Lin, Mei Liu, Zheng-Qi Lu
Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2; OMIM 612035) have been linked to leukoencephalopathy recently. Until now, there have been only 13 cases reported in the literature. Hence, the clinical and genetic characteristics of this disease are not fully understood. Here, we reported an adolescence-onset male leukoencephalopathy patient characterized by progressive limb tremor at the age of 17 years. He had no signs of a cardiomyopathy. Magnetic resonance imaging scanning demonstrated severe cerebellar atrophy and white matter abnormalities involving descending tracts...
April 17, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29663120/similarities-and-differences-between-infantile-and-early-childhood-onset-vanishing-white-matter-disease
#2
Ling Zhou, Haihua Zhang, Na Chen, Zhongbin Zhang, Ming Liu, Lifang Dai, Jingmin Wang, Yuwu Jiang, Ye Wu
Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimaging features of VWM. Infantile and childhood patients shared similarities in the incidence of epileptic seizure (35.7 vs. 38.5%) and episodic aggravation (92.9 vs. 84.6%). Developmental delay before disease onset was more common in infantile patients...
April 16, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29661901/megalencephalic-leukoencephalopathy-with-subcortical-cysts-characterization-of-disease-variants
#3
Eline M C Hamilton, Pinar Tekturk, Fia Cialdella, Diane F van Rappard, Nicole I Wolf, Cengiz Yalcinkaya, Ümran Çetinçelik, Ahmad Rajaee, Ariana Kariminejad, Justyna Paprocka, Zuhal Yapici, Vlatka Mejaški Bošnjak, Marjo S van der Knaap
OBJECTIVE: To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features. METHODS: We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review...
April 17, 2018: Neurology
https://www.readbyqxmd.com/read/29661457/progressive-multifocal-leukoencephalopathy-following-combined-rituximab-based-immune-chemotherapy-for-post-transplant-lymphoproliferative-disorder-in-a-renal-transplant-recipient-a-case-report
#4
M Windpessl, S Burgstaller, A Kronbichler, H Pieringer, O Kalev, A Karrer, M Wallner, J Thaler
BACKGROUND: Transplant recipients are at risk of developing progressive multifocal leukoencephalopathy (PML), an opportunistic infection due to reactivation of JC virus. Post-transplant lymphoproliferative disorders (PTLDs) represent a common malignancy in this population, and antiCD20-therapy has become an established component of its treatment. CASE PRESENTATION: We describe the first case of a renal allograft transplant recipient with PTLD who received rituximab-based immune-chemotherapy and developed PML shortly thereafter...
April 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29656742/pathogenesis-of-progressive-multifocal-leukoencephalopathy-and-risks-associated-with-treatments-for-multiple-sclerosis-a-decade-of-lessons-learned
#5
REVIEW
Eugene O Major, Tarek A Yousry, David B Clifford
Progressive multifocal leukoencephalopathy (PML) is a rare, devastating demyelinating disease of the CNS caused by the JC virus (JCV) that occurs in patients with compromised immune systems. Detection of PML in systemically immunocompetent patients with multiple sclerosis treated with natalizumab points to a role for this drug in the pathophysiology of PML. Emerging knowledge of the cellular and molecular biology of JCV infection and the pathogenesis of PML-including interplay of this common virus with the human immune system and features of natalizumab that might contribute to PML pathogenesis-provides new opportunities to monitor viral status and predict risk of JCV-associated disease...
May 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29643404/canine-napepld-associated-models-of-human-myelin-disorders
#6
K M Minor, A Letko, D Becker, M Drögemüller, P J J Mandigers, S R Bellekom, P A J Leegwater, Q E M Stassen, K Putschbach, A Fischer, T Flegel, K Matiasek, K J Ekenstedt, E Furrow, E E Patterson, S R Platt, P A Kelly, J P Cassidy, G D Shelton, K Lucot, D L Bannasch, H Martineau, C F Muir, S L Priestnall, D Henke, A Oevermann, V Jagannathan, J R Mickelson, C Drögemüller
Canine leukoencephalomyelopathy (LEMP) is a juvenile-onset neurodegenerative disorder of the CNS white matter currently described in Rottweiler and Leonberger dogs. Genome-wide association study (GWAS) allowed us to map LEMP in a Leonberger cohort to dog chromosome 18. Subsequent whole genome re-sequencing of a Leonberger case enabled the identification of a single private homozygous non-synonymous missense variant located in the highly conserved metallo-beta-lactamase domain of the N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD) gene, encoding an enzyme of the endocannabinoid system...
April 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29625105/myoclonus-epilepsy-retinitis-pigmentosa-leukoencephalopathy-and-cerebral-calcifications-associated-with-a-novel-m-5513g-a-mutation-in-the-mt-tw-gene
#7
Elena Cardaioli, Andrea Mignarri, Teresa Anna Cantisani, Alessandro Malandrini, Claudia Nesti, Anna Rubegni, Niccola Funel, Antonio Federico, Filippo Maria Santorelli, Maria Teresa Dotti
We sequenced the mitochondrial genome from a 40-year-old woman with myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications. Histological and biochemical features of mitochondrial respiratory chain dysfunction were present. Direct sequencing showed a novel heteroplasmic mutation at nucleotide 5513 in the MT-TW gene that encodes tRNATrp . Restriction Fragment Length Polymorphism analysis confirmed that about 80% of muscle mtDNA harboured the mutation while it was present in minor percentages in mtDNA from other tissues...
April 3, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29622486/autopsy-neuropathology-findings-in-a-child-with-chronic-infantile-krabbe-leukoencephalopathy
#8
Marc R Del Bigio
No abstract text is available yet for this article.
March 9, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29620790/john-cunningham-virus-an-overview-on-biology-and-disease-of-the-etiological-agent-of-the-progressive-multifocal-leukoencephalopathy
#9
Valeria Pietropaolo, Carla Prezioso, Francesca Bagnato, Guido Antonelli
John Cunningham virus (JCV), the etiological agent of progressive multifocal leukoencephalopathy (PML), is the first human polyomavirus described. After asymptomatic primary infection which occurs in childhood, the virus spreads by the hematogenous route from the primary site of infection to secondary sites including kidneys, lymphoid tissues, peripheral blood leukocytes, and brain to establish latent infection. During immunosuppression the virus undergoes molecular rearrangements that allow it to replicate in glial tissues causing PML...
April 5, 2018: New Microbiologica
https://www.readbyqxmd.com/read/29618691/-monomac-syndrome-patient-developing-myelodysplastic-syndrome-following-persistent-ebv-infection
#10
Hideyuki Yamamoto, Hikaru Hattori, Erina Takagi, Takanobu Morishita, Yuichi Ishikawa, Seitaro Terakura, Tetsuya Nishida, Yoshinori Ito, Makoto Murata, Hitoshi Kiyoi
An 18-year-old man was diagnosed with Epstein-Barr virus (EBV) -associated hemophagocytic syndrome (HPS) and treated with prednisolone (PSL) at a previous hospital. During PSL tapering, the HPS symptoms reappeared, and the patient was referred to our hospital. Increased PSL improved the symptoms, but the EBV infection remained unresolved. At age 20, he was admitted to our hospital for newly developed pneumonia and diagnosed with myelodysplastic syndrome (refractory cytopenia with multilineage dysplasia) (MDS-RCMD; normal karyotype, IPSS: Int-1) by bone marrow examination...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29616716/treatment-of-delayed-post-hypoxic-leukoencephalopathy-as-a-complication-of-carbon-monoxide-poisoning-with-risperidone-and-hyperbaric-oxygen-therapy
#11
Jeff Huarcaya-Victoria, Angela Podestá-Ampuero, Mario Ledesma-Gastañadui, Carmen Reinoso-Santa Cruz
No abstract text is available yet for this article.
March 2018: Actas Españolas de Psiquiatría
https://www.readbyqxmd.com/read/29615062/kars-related-diseases-progressive-leukoencephalopathy-with-brainstem-and-spinal-cord-calcifications-as-new-phenotype-and-a-review-of-literature
#12
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
BACKGROUND: KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment. Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or associated with muscular and cerebral involvement, have been reported...
April 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29606936/vedolizumab-as-a-potential-culprit-in-the-development-of-ovarian-teratoma
#13
Judy A Trieu, Mohammad Bilal, Gurinder Luthra
Vedolizumab is a new humanized monoclonal antibody that has been reserved for those with moderate-to-severe Crohn's disease and ulcerative colitis who have failed immunomodulator and TNF-α antagonist therapy, and for those who have an increased risk for developing progressive multifocal leukoencephalopathy. Because it targets gastrointestinal tract-specific lymphocytes, meta-analyses and integrated studies have shown that vedolizumab causes fewer extraintestinal adverse effects, such as opportunistic infections and malignancies, compared with anti-TNF therapies...
September 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/29604971/progressive-multifocal-leukoencephalopathy
#14
Shaun Zhai, Bruce James Brew
Progressive multifocal leukoencephalopathy (PML) is a relatively common complication of HIV disease. In this chapter changes to the epidemiology are discussed along with an update in its pathogenesis and treatment. Immune reconstitution inflammatory syndrome is increasingly frequent in PML; accordingly management strategies and prognosis are detailed.
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29600441/efficacy-and-safety-of-the-newer-multiple-sclerosis-drugs-approved-since-2010
#15
REVIEW
Simon Faissner, Ralf Gold
Multiple sclerosis treatment faces tremendous changes as a result of the approval of new medications. The new medications have differing safety considerations and risks after long-term treatment, which are important for treating physicians to optimize and individualize multiple sclerosis care. Since the approval of the first multiple sclerosis capsule, fingolimod, the armamentarium of multiple sclerosis therapy has grown with the orally available medications dimethyl fumarate and teriflunomide. Fingolimod is mainly associated with cardiac side effects, dimethyl fumarate with bowel symptoms...
March 29, 2018: CNS Drugs
https://www.readbyqxmd.com/read/29596541/association-of-cerebrospinal-fluid-biomarkers-of-central-nervous-system-injury-with-neurocognitive-and-brain-imaging-outcomes-in-children-receiving-chemotherapy-for-acute-lymphoblastic-leukemia
#16
Yin Ting Cheung, Raja B Khan, Wei Liu, Tara M Brinkman, Michelle N Edelmann, Wilburn E Reddick, Deqing Pei, Angela Panoskaltsis-Mortari, Deokumar Srivastava, Cheng Cheng, Leslie L Robison, Melissa M Hudson, Ching-Hon Pui, Kevin R Krull
Importance: Little is known about treatment-related neurotoxic mechanisms in children with acute lymphoblastic leukemia (ALL) treated with chemotherapy only. Objective: To examine concentration of cerebrospinal fluid (CSF) biomarkers of brain injury at ALL diagnosis and during cancer therapy and to evaluate associations with long-term neurocognitive and neuroimaging outcomes and relevant genetic polymorphisms. Design, Setting, and Participants: This prospective cohort study included 235 patients with ALL who received a chemotherapy-only protocol...
March 29, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29577824/cavitating-leukoencephalopathy-with-posterior-predominance-caused-by-a-deletion-in-the-apopt1-gene-in-an-indian-boy
#17
Suvasini Sharma, Preeti Singh, Erika Fernandez-Vizarra, Massimo Zeviani, Marjo S Van der Knaap, Ravindra Kumar Saran
A 5-year-old Indian boy presented with subacute onset regression of milestones associated with seizures and spasticity. The symptoms started after an attack of measles. The magnetic resonance imaging (MRI) of the brain showed cavitating leukodystrophy with posterior predominance. Molecular analysis of the APOPT1 gene, a recently described gene associated with mitochondrial leukodystrophy, showed the patient to be homozygous for a 12.82-kilobase deletion, including coding exon 3. Deletion of exon 3 produces a frameshift, predicting the translation of a truncated protein (p...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29571287/chronic-oxycodone-induces-axonal-degeneration-in-rat-brain
#18
Ruping Fan, Lisa M Schrott, Thomas Arnold, Stephen Snelling, Meghana Rao, Derrel Graham, Angela Cornelius, Nadejda L Korneeva
BACKGROUND: Chronic opioid therapy for non-malignant pain conditions has significantly increased over the last 15 years. Recently, the correlation between opioid analgesics and alternations in brain structure, such as leukoencephalopathy, axon demyelination, and white matter lesions, has been demonstrated in patients with a history of long-term use of prescription opioids. The exact mechanisms underlying the neurotoxic effect of opioids on the central nervous system are still not fully understood...
March 23, 2018: BMC Neuroscience
https://www.readbyqxmd.com/read/29561953/heterozygous-htra1-missense-mutation-in-cadasil-like-family-disease
#19
Xiaowei Wu, Changxin Li, Jinming Mao, Ling Li, Yan Liu, Yao Hou
The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related genes. The clinical and imaging data of a CADASIL-like patient (the pro-band) and his family members were collected. At first, the known hereditary cerebral vascular genes of the pro-band were screened with direct sequencing to find candidate gene mutations...
March 15, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29560949/-actual-problems-of-brain-pathology-in-cerebral-microangiopathy
#20
L A Kalashnikova, T S Gulevskaya, L A Dobrynina
Cerebral microangiopathy (small vessels disease) is a cause of diffuse changes of brain tissue (encephalopathy) denoted in Russian literature by the term dyscirculatory encephalopathy (DE). The main cause of microangiopathy leading to encephalopathy is arterial hypertension, less frequently - cerebral amyloid angiopathy and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. The diagnosis of encephalopathy in patients with microangiopathy is based on the combination of clinical manifestations (mainly, cognitive impairment of varying severity and disorders of gait) with the neuroimaging changes (white matter hyperintensity, multiple lacunar infarcts on MRI)...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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