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https://www.readbyqxmd.com/read/29451896/hypomyelinating-disorders-in-china-the-clinical-and-genetic-heterogeneity-in-119-patients
#1
Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang
OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population. METHODS: 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated based on their history, clinical manifestation, laboratory examinations, series of brain MRI with follow-up, genetic etiological tests including chromosomal analysis, multiplex ligation probe amplification, Sanger sequencing, targeted enrichment-based next-generation sequencing and whole exome sequencing...
2018: PloS One
https://www.readbyqxmd.com/read/29444246/reply-the-recurrent-mutation-in-tmem106b-also-causes-hypomyelinating-leukodystrophy-in-china-and-is-a-cpg-hotspot
#2
Cas Simons, David Dyment, Marjo S van der Knaap, Nicole I Wolf
No abstract text is available yet for this article.
February 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29444210/the-recurrent-mutation-in-tmem106b-also-causes-hypomyelinating-leukodystrophy-in-china-and-is-a-cpg-hot-spot
#3
Huifang Yan, Thomas Kubisiak, Haoran Ji, Jiangxi Xiao, Jingmin Wang, Margit Burmeister
No abstract text is available yet for this article.
February 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29433937/long-term-improvement-of-neurological-signs-and-metabolic-dysfunction-in-a-mouse-model-of-krabbe-s-disease-after-global-gene-therapy
#4
Michael S Marshall, Yazan Issa, Benas Jakubauskas, Monika Stoskute, Vince Elackattu, Jeffrey N Marshall, Wil Bogue, Duc Nguyen, Zane Hauck, Emily Rue, Subha Karumuthil-Melethil, Violeta Zaric, Maarten Bosland, Richard B van Breemen, Maria I Givogri, Steven J Gray, Stephen J Crocker, Ernesto R Bongarzone
We report a global adeno-associated virus (AAV)9-based gene therapy protocol to deliver therapeutic galactosylceramidase (GALC), a lysosomal enzyme that is deficient in Krabbe's disease. When globally administered via intrathecal, intracranial, and intravenous injections to newborn mice affected with GALC deficiency (twitcher mice), this approach largely surpassed prior published benchmarks of survival and metabolic correction, showing long-term protection of demyelination, neuroinflammation, and motor function...
January 17, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29432240/leukodystrophies
#5
Amy T Waldman
PURPOSE OF REVIEW: The leukodystrophies, typically considered incurable neurodegenerative disorders, are often diagnosed after irreversible central and peripheral nervous system injury has occurred. Early recognition of these disorders is imperative to enable potential therapeutic interventions. This article provides a summary of the symptoms of and diagnostic evaluation for leukodystrophies, along with the currently available therapies and recent advances in management. RECENT FINDINGS: The leukodystrophies are a rapidly expanding field because of advances in neuroimaging and genetics; however, recognition of the clinical and biochemical features of a leukodystrophy is essential to accurately interpret an abnormal MRI or genetic result...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29429779/ataxia-with-hypodontia-a-unique-leukodystrophy
#6
Amanda D Currie, Swati A Karmarkar
No abstract text is available yet for this article.
December 27, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29413149/slowly-progressive-psychiatric-symptoms-think%C3%A2-metachromatic-leukodystrophy
#7
EDITORIAL
Diane F van Rappard, Annelou L C de Vries, Kim J Oostrom, Jaap Jan Boelens, Carla E M Hollak, Marjo S van der Knaap, Nicole I Wolf
No abstract text is available yet for this article.
February 2018: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/29397290/complex-care-of-individuals-with-multiple-sulfatase-deficiency-clinical-cases-and-consensus-statement
#8
Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti-Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Ficicioglu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura A Adang
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis...
January 31, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29388673/expanding-the-clinical-and-genetic-spectra-of-nkx6-2-related-disorder
#9
C Baldi, A M Bertoli-Avella, N Al-Sannaa, M Alfadhel, K Al-Thilhi, S Alameer, A A Elmonairy, A M Al Shamsi, H A Abdelrahman, L Al-Gazali, A Shawli, F Al Hakami, H Yavuz, K K Kandaswamy, A Rolfs, O Brandau, P Bauer
Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system, and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD. Using whole exome or whole genome sequencing, we identified the previously reported c.196delC and c.487C>G variants in NKX6-2 in three and two unrelated index cases, respectively; the novel c.608G>A variant was identified in a sixth patient...
February 1, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29385852/clinical-trial-of-mgmt-p140k-gene-therapy-in-the-treatment-of-paediatric-patients-with-brain-tumours
#10
Belinda Kramer, Radhika Singh, Jessica Wischusen, Rebecca Velickovic, Amanda Rush, Shiloh Middlemiss, Yu-Wooi Ching, Ian Edward Alexander, Geoffrey B McCowage
Gene transfer targeting haematopoietic stem cells (HSC) in children has shown sustained therapeutic benefit in the treatment of genetic diseases affecting the immune system, most notably in the severe combined immuno-deficiencies affecting T cell function. The HSC compartment has also been successfully targeted using gene transfer in children with genetic diseases affecting the central nervous system, such as metachromatic leukodystrophy and adrenoleukodystrophy. The HSC is also a target for genetic modification in strategies aiming to confer drug resistance to chemotherapy agents so as to reduce off-target toxicity, and to allow for chemotherapy dose escalation with the possibility of enhanced therapeutic benefit...
January 31, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29383515/diffusion-tensor-imaging-in-metachromatic-leukodystrophy
#11
Diane F van Rappard, Marsh Königs, Marjan E Steenweg, Jaap Jan Boelens, Jaap Oosterlaan, Marjo S van der Knaap, Nicole I Wolf, Petra J W Pouwels
OBJECTIVE: We aimed to gain more insight into the pathomechanisms of metachromatic leukodystrophy (MLD), by comparing magnitude and direction of diffusion between patients and controls at diagnosis and during follow-up. METHODS: Four late-infantile, 16 juvenile and 8 adult onset MLD patients [of which 13 considered eligible for hematopoietic cell transplantation (HCT)] and 47 controls were examined using diffusion tensor imaging. Fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD) were quantified and compared between groups using tract-based spatial statistics (TBSS)...
January 30, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29382480/-association-between-homozygous-c-318a-gt-mutation-in-exon-2-of-the-eif2b5-gene-and-the-infantile-form-of-vanishing-white-matter-leukoencephalopathy
#12
Carmen Esmer, Gabriela Blanco Hernández, Víctor Saavedra Alanís, Jorge Guillermo Reyes Vaca, Antonio Bravo Oro
BACKGROUND: Vanishing white matter disease is one of the most frequent leukodystrophies in childhood with an autosomal recessive inheritance. A mutation in one of the genes encoding the five subunits of the eukaryotic initiation factor 2 (EIF2B5) is present in 90% of the cases. The diagnosis can be accomplished by the clinical and neuroradiological findings and molecular tests. CASE REPORT: We describe a thirteen-month-old male with previous normal neurodevelopment, who was hospitalized for vomiting, hyperthermia and irritability...
September 2017: Boletín Médico del Hospital Infantil de México
https://www.readbyqxmd.com/read/29375859/congenital-methemoglobinemia-type-ii-in-a-5-year-old-boy
#13
Elizabeth A Mannino, Thomas Pluim, Jacob Wessler, Megan T Cho, Jane Juusola, Samantha A Schrier Vergano
Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger-scale genetic studies.
January 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29361054/analysis-of-the-human-sox10-mutation-q377x-in-mice-and-its-implications-for-genotype-phenotype-correlation-in-sox10-related-human-disease
#14
Kathrin Truch, Juliane Arter, Tanja Turnescu, Matthias Weider, Anna C Hartwig, Ernst R Tamm, Elisabeth Sock, Michael Wegner
Human SOX10 mutations lead to various diseases including Waardenburg syndrome, Hirschsprung disease, peripheral demyelinating neuropathy, central leukodystrophy, Kallmann syndrome and various combinations thereof. It has been postulated that PCWH as a combination of Waardenburg and Hirschsprung disease, peripheral neuropathy and central leukodystrophy is caused by heterozygous SOX10 mutations that result in the presence of a dominantly acting mutant SOX10 protein in the patient. One such protein with postulated dominant action is SOX10 Q377X...
January 17, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29344584/early-and-late-outcomes-after-cord-blood-transplantation-for-pediatric-patients-with-inherited-leukodystrophies
#15
Brigitte T A van den Broek, Kristin Page, Annalisa Paviglianiti, Janna Hol, Heather Allewelt, Fernanda Volt, Gerard Michel, Miguel Angel Diaz, Victoria Bordon, Tracey O'Brien, Peter J Shaw, Chantal Kenzey, Amal Al-Seraihy, Peter M van Hasselt, Andrew R Gennery, Eliane Gluckman, Vanderson Rocha, Annalisa Ruggeri, Joanne Kurtzberg, Jaap Jan Boelens
Leukodystrophies (LD) are devastating inherited disorders leading to rapid neurological deterioration and premature death. Hematopoietic stem cell transplantation (HSCT) can halt disease progression for selected LD. Cord blood is a common donor source for transplantation of these patients because it is rapidly available and can be used without full HLA matching. However, precise recommendations allowing care providers to identify patients who benefit from HSCT are lacking. In this study, we define risk factors and describe the early and late outcomes of 169 patients with globoid cell leukodystrophy, X-linked adrenoleukodystrophy, and metachromatic leukodystrophy undergoing cord blood transplantation (CBT) at an European Society for Blood and Marrow Transplantation center or at Duke University Medical Center from 1996 to 2013...
January 9, 2018: Blood Advances
https://www.readbyqxmd.com/read/29340559/serial-magnetic-resonance-imaging-changes-in-a-patient-with-late-onset-cobalamin-c-disease-with-a-misdiagnosis-of-metachromatic-leukodystrophy
#16
Chujun Wu, Qingli Sun, Dongsheng Fan
No abstract text is available yet for this article.
January 16, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29333903/the-first-report-of-relative-incidence-of-inherited-white-matter-disorders-in-an-asian-country-based-on-an-iranian-bioregistry-system
#17
Mahmoud Reza Ashrafi, Zahra Rezaei, Morteza Heidari, Sedigheh Nikbakht, Reza Azizi Malamiri, Mahmoud Mohammady, Gholam Reza Zamani, Reza Shervin Badv, Parastoo Rostami, Mojtaba Movahedinia, Mostafa Qorbani, Man Amanat, Ali Reza Tavasoli
Childhood leukodystrophies are a fast-growing field of pediatric neurology practice. Epidemiologic studies on the incidence of these disorders in children show different results. This is the first report of childhood leukodystrophies incidence from Iran. The enrolled patients were recruited from the neurometabolic bioregistry system that was organized in 2010 in the Children's Medical Center, Tehran, Iran. Herein is reported the incidence rate of leukodystrophies in those patients who were residents of 2 big popular provinces near Iran's capital city Tehran, with an average child population of 2 988 800 children...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29323240/engineered-3d-printed-artificial-axons
#18
Daniela Espinosa-Hoyos, Anna Jagielska, Kimberly A Homan, Huifeng Du, Travis Busbee, Daniel G Anderson, Nicholas X Fang, Jennifer A Lewis, Krystyn J Van Vliet
Myelination is critical for transduction of neuronal signals, neuron survival and normal function of the nervous system. Myelin disorders account for many debilitating neurological diseases such as multiple sclerosis and leukodystrophies. The lack of experimental models and tools to observe and manipulate this process in vitro has constrained progress in understanding and promoting myelination, and ultimately developing effective remyelination therapies. To address this problem, we developed synthetic mimics of neuronal axons, representing key geometric, mechanical, and surface chemistry components of biological axons...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29322432/renal-histopathological-findings-of-retinal-vasculopathy-with-cerebral-leukodystrophy
#19
Yutaka Tsubata, Takashi Morita, Tetsuo Morioka, Taiji Sasagawa, Kouzo Ikarashi, Noriko Saito, Hisaki Shimada, Shigeru Miyazaki, Shinji Sakai, Hajime Tanaka, Rie Saito, Yasuko Toyoshima, Hiroaki Nozaki, Ichiei Narita
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant systemic microvascular disease. Neurological disorders and visual disturbance are highlighted as manifestations of RVCL; however, there are few reports focused on nephropathy. Herein, we describe detailed renal histopathological findings in a daughter and father with RVCL, proven by TREX1 genetic analysis. A kidney biopsy of the daughter, 35-year-old with asymptomatic proteinuria, revealed unique and various glomerular changes...
January 10, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29316812/aavrh10-gene-therapy-ameliorates-central-and-peripheral-nervous-system-disease-in-canine-globoid-cell-leukodystrophy-krabbe-disease
#20
Allison M Bradbury, Mohammad A Rafi, Jessica Bagel, Becky K Brisson, Michael S Marshall, Jill Pesayco Salvador, Xuntian Jiang, Gary P Swain, Maria L Prociuk, Patricia O'Donnell, Caitlin Fitzgerald, Daniel S Ory, Ernesto R Bongarzone, G Diane Shelton, David A Wenger, Charles Vite
Globoid cell leukodystrophy (GLD), or Krabbe disease, is an inherited, neurologic disorder that results from deficiency of a lysosomal enzyme, galactosylceramidase (GALC). Most commonly, deficits of GALC result in widespread central and peripheral nervous system (CNS, PNS) demyelination and death in affected infants typically by 2 years of age. Hematopoietic stem cell transplantation is the current standard of care in children diagnosed prior to symptom onset; however, disease correction is incomplete. Herein we present the first adeno-associated virus (AAV) gene therapy experiments in a naturally occurring canine model of GLD that closely recapitulates the clinical disease progression, neuropathological alterations, and biochemical abnormalities observed in human patients...
January 9, 2018: Human Gene Therapy
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