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Adrenoleukodystrophy

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https://www.readbyqxmd.com/read/29620081/relative-adrenal-insufficiency-in-adult-onset-cerebral-x-linked-adrenoleukodystrophy
#1
Takeo Sato, Tadashi Umehara, Atsuo Nakahara, Hisayoshi Oka
No abstract text is available yet for this article.
October 2017: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29615068/modeling-and-rescue-of-defective-blood-brain-barrier-function-of-induced-brain-microvascular-endothelial-cells-from-childhood-cerebral-adrenoleukodystrophy-patients
#2
Catherine A A Lee, Hannah S Seo, Anibal G Armien, Frank S Bates, Jakub Tolar, Samira M Azarin
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene. 40% of X-ALD patients will convert to the deadly childhood cerebral form (ccALD) characterized by increased permeability of the brain endothelium that constitutes the blood-brain barrier (BBB). Mutation information and molecular markers investigated to date are not predictive of conversion. Prior reports have focused on toxic metabolic byproducts and reactive oxygen species as instigators of cerebral inflammation and subsequent immune cell invasion leading to BBB breakdown...
April 4, 2018: Fluids and Barriers of the CNS
https://www.readbyqxmd.com/read/29560371/post-transplant-adaptive-function-in-childhood-cerebral-adrenoleukodystrophy
#3
Elizabeth I Pierpont, Erin McCoy, Kelly E King, Rich S Ziegler, Ryan Shanley, David Nascene, Gerald V Raymond, Rachel Phelan, Troy C Lund, Paul J Orchard, Weston P Miller
Objective: Hematopoietic stem cell transplantation (HSCT) is the only treatment known to slow or halt inflammatory demyelination among boys with the cerebral form of X-linked adrenoleukodystrophy (cALD), a devastating childhood condition affecting the central nervous system. HSCT can lead to a range of adverse outcomes including fatality. Previous studies have examined the potential predictors of post-HSCT survival and neurologic functioning. However, little is known about patients' daily-life adaptive functional outcomes (i...
March 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29557549/-x-linked-adrenoleukodystrophy-with-an-atypical-radiological-pattern
#4
A Ulate-Campos, J Petanas-Argemi, M Rebollo-Polo, C Jou, C Sierra, J Armstrong, M C Fons-Estupina
INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It is due to a mutation in the ABCD1 gene. The loss of functioning of ABCD1 triggers ineffective beta oxidation of very long-chain fatty acids, which gives rise to an accumulation of these fatty acids. The typical alteration revealed in neuroimaging scans in the cerebral form is symmetrical periventricular demyelination with posterior location. CASE REPORT: We report the case of a 10-year-old boy with right spastic hemiparesis and subacute cognitive impairment...
April 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29482424/histologic-and-ultrastructural-features-in-early-and-advanced-phases-of-zellweger-spectrum-disorder-infantile-refsum-disease
#5
Mikako Warren, Gary Mierau, Eric P Wartchow, Hiroyuki Shimada, Shoji Yano
Zellweger spectrum disorders (ZSD) are rare autosomal recessive inherited metabolic disorders and include severe (Zellweger syndrome) and milder phenotypes [neonatal adrenoleukodystrophy and infantile Refsum disease (IRD)]. ZSD are characterized by impaired peroxisomal functions and lack of peroxisomes detected by electron microscopy (EM). ZSD are caused by mutations in any of the 14 PEX genes. Patients with ZSD commonly demonstrate nonspecific hepatic symptoms within the first year, often without clinical suspicion of ZSD...
February 26, 2018: Ultrastructural Pathology
https://www.readbyqxmd.com/read/29476661/epigenomic-signature-of-adrenoleukodystrophy-predicts-compromised-oligodendrocyte-differentiation
#6
Agatha Schlüter, Juan Sandoval, Stéphane Fourcade, Angel Díaz-Lagares, Montserrat Ruiz, Patrizia Casaccia, Manel Esteller, Aurora Pujol
Epigenomic changes may either cause disease or modulate its expressivity, adding a layer of complexity to mendelian diseases. X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic condition exhibiting discordant phenotypes, ranging from a childhood cerebral inflammatory demyelination (cALD) to an adult-onset mild axonopathy in spinal cords (AMN). The AMN form may occur with superimposed inflammatory brain demyelination (cAMN). All patients harbor loss of function mutations in the ABCD1 peroxisomal transporter of very-long chain fatty acids...
February 24, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29469952/profiling-and-imaging-of-phospholipids-in-brains-of-abcd1-deficient-mice
#7
Kotaro Hama, Yuko Fujiwara, Masashi Morita, Fumiyoshi Yamazaki, Yuko Nakashima, Shiro Takei, Shigeo Takashima, Mitsutoshi Setou, Nobuyuki Shimozawa, Tsuneo Imanaka, Kazuaki Yokoyama
ABCD1 is a gene responsible for X-linked adrenoleukodystrophy (X-ALD), and is critical for the transport of very long-chain fatty acids (VLCFA) into peroxisomes and subsequent β-oxidation. VLCFA-containing lipids accumulate in X-ALD patients, although the effect of ABCD1-deficiency on each lipid species in the central nervous system has not been fully characterized. In this study, each phospholipid and lysophospholipid species in Abcd1-deficient mice brains were profiled by liquid chromatography-mass spectrometry...
February 22, 2018: Lipids
https://www.readbyqxmd.com/read/29446847/lipidomic-analysis-from-archaea-to-mammals
#8
REVIEW
Tomáš Řezanka, Irena Kolouchová, Lucia Gharwalová, Andrea Palyzová, Karel Sigler
Lipids are among the most important organic compounds found in all living cells, from primitive archaebacteria to flowering plants or mammalian cells. They form part of cell walls and constitute cell storage material. Their biosynthesis and metabolism play key roles in faraway topics such as biofuel production (third-generation biofuels produced by microorganisms, e.g. algae) and human diseases such as adrenoleukodystrophy, Zellweger syndrome, or Refsum disease. Current lipidomic analysis requires fast and accurate processing of samples and especially their characterization...
February 15, 2018: Lipids
https://www.readbyqxmd.com/read/29438773/peroxisomal-disorders-improved-laboratory-diagnosis-new-defects-and-the-complicated-route-to-treatment
#9
Ronald J A Wanders
Peroxisomes catalyze a number of essential metabolic functions of which fatty acid alpha- and beta-oxidation, ether phospholipid biosynthesis, glyoxylate detoxification and bile acid synthesis are the most important. The key role of peroxisomes in humans is exemplified by the existence of a group of peroxisomal disorders, caused by mutations in > 30 different genes which codes for proteins with a role in either peroxisome biogenesis or one of the metabolic pathways in peroxisomes. Technological advances in laboratory methods at the metabolite-, enzyme-, and molecular level has not only allowed the identification of a new peroxisomal disorder but also new phenotypes associated with already identified genetic defects thus extending the clinical spectrum...
February 10, 2018: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/29392586/transplantation-as-disease-modifying-therapy-in-adults-with-inherited-metabolic-disorders
#10
REVIEW
Sandra Sirrs, Fady Hannah-Shmouni, Stephen Nantel, James Neuberger, Eric M Yoshida
Transplantation is an established disease modifying therapy in selected children with certain inherited metabolic diseases (IMDs). Transplantation of hematopoietic stem cells or solid organs can be used to partially correct the underlying metabolic defect, address life threatening disease manifestations (such as neutropenia) or correct organ failure caused by the disease process. Much less information is available on the use of transplantation in adults with IMDs. Transplantation is indicated for the same IMDs in adults as in children...
February 1, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29390592/unusual-brain-images-of-a-boy-with-adolescent-cerebral-x-linked-adrenoleukodystrophy-presenting-with-exhibitionism-a-care-compliant-case-report
#11
Feixia Zheng, Zhongdong Lin, Xiuyun Ye, Xulai Shi
RATIONALE: The respective involvements of both the thalamus and exhibitionism in cerebral X-linked adrenoleukodystrophy (X-ALD) have not been reported. PATIENT CONCERNS: An 11-year-old boy initially presented with exhibitionism and progressive neurobehavioral symptoms. He subsequently developed transient urinary and fecal incontinence, and an unwillingness to eat or communicate. DIAGNOSES: We conducted contrast-enhanced brain magnetic resonance imaging (MRI), which revealed symmetrical altered signal intensities in bilateral frontal white matter, the basal ganglia, and dorsal thalami, as well as a peripheral rim of contrast enhancement...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29386416/childhood-cerebral-x-linked-adrenoleukodystrophy-with-atypical-neuroimaging-abnormalities-and-a-novel-mutation
#12
M Muranjan, S Karande, S Sankhe, S Eichler
Childhood cerebral X-linked adrenoleukodystrophy (XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities. A major diagnostic clue is the characteristic neuroinflammatory parieto-occipital white matter lesions on magnetic resonance imaging. This study reports a 5-year 10-month old boy presenting with generalized skin hyperpigmentation since 3 years of age. Over the past 9 months, he had developed right-sided hemiparesis and speech and behavioral abnormalities, which had progressed over 5 months to bilateral hemiparesis...
January 2018: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/29385852/clinical-trial-of-mgmt-p140k-gene-therapy-in-the-treatment-of-paediatric-patients-with-brain-tumours
#13
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/29385368/gene-therapy-for-cerebral-adrenoleukodystrophy
#14
LETTER
David A Williams, Florian Eichler, Christine Duncan
No abstract text is available yet for this article.
February 1, 2018: New England Journal of Medicine
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/29330393/haploidentical-bone-marrow-transplantation-with-post-transplant-cyclophosphamide-for-patients-with-x-linked-adrenoleukodystrophy-a-suitable-choice-in-an-urgent-situation
#16
Juliana Folloni Fernandes, Carmem Bonfim, Fábio Rodrigues Kerbauy, Morgani Rodrigues, Iracema Esteves, Nathalia Halley Silva, Alessandra Prandini Azambuja, Luiz Fernando Mantovani, José Mauro Kutner, Gisele Loth, Cilmara Cristina Kuwahara, Clarissa Bueno, Andrea Tiemi Kondo, Andreza Alice Feitosa Ribeiro, Fernando Kok, Nelson Hamerschlak
Allogeneic hematopoietic stem cell transplantation (HSCT) is the only treatment that enhances survival and stabilizes neurologic symptoms in X-linked adrenoleukodystrophy (X-ALD) with cerebral involvement, a severe demyelinating disease of childhood. Patients with X-ALD who lack a well-matched HLA donor need a rapid alternative. Haploidentical HSCT using post transplant cyclophosphamide (PT/Cy) has been performed in patients with malignant and nonmalignant diseases showing similar outcomes compared to other alternative sources...
April 2018: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29302065/adulthood-leukodystrophies
#17
REVIEW
Wolfgang Köhler, Julian Curiel, Adeline Vanderver
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood. We summarize 20 leukodystrophies with adult presentations, providing information on the underlying genetic mutations and on biochemical assays that aid diagnosis, where available. Definitions, clinical characteristics, age of onset, MRI findings and treatment options are all described, providing a comprehensive overview of the current knowledge of the various adulthood leukodystrophies...
February 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29284317/autonomic-dysfunction-in-a-patient-with-x-linked-adrenoleukodystrophy
#18
Yifan Zhang, Dongmei Guo, Yi Tang
X-linked adrenoleukodystrophy is an inherited disease caused by abnormal accumulation of very long chain fatty acids. The diagnosis of X-linked adrenoleukodystrophy can be confirmed with the mutation of ABCD1 gene. The main symptom of the X-linked adrenoleukodystrophy is spastic paraparesis, and autonomic dysfunction is rare in X-linked adrenoleukodystrophy. Here, we presented an X-ALD case of a 46-year-old Asian male with severe autonomic dysfunction. Impairment of the autonomic nervous system may closely relate to mitochondrial defect...
December 28, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29201369/x-linked-adult-onset-adrenoleukodystrophy-psychiatric-and-neurological-manifestations
#19
Daniah Shamim, Karen Alleyne
Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric disorder. Prior to onset of neurological symptoms, this patient demonstrated a schizophrenia and bipolar-like presentation. The disease progressed over the next 10-13 years and his memory and motor problems became evident around the age of 33 years. Subsequently, diagnostic testing showed the typical magnetic resonance imaging and lab findings for adult-onset adrenoleukodystrophy...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29200571/adolescent-onset-x-linked-adrenoleukodystrophy-presenting-as-treatment-resistant-bipolar-disorder
#20
Anirban Ray, Satish Chandra Girimaji, Rose Dawn Bharath
A small proportion of bipolar disorder of adolescent onset can be secondary to underlying neurological disorder (secondary mania). We report a case of treatment-resistant mania secondary to cerebral form of adrenoleukodystrophy of adolescent onset. This case demonstrates the need for clinicians to be alert to the possibility of rare neurological diseases that can present with psychiatric manifestations.
September 2017: Indian Journal of Psychological Medicine
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