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Adrenoleukodystrophy

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https://www.readbyqxmd.com/read/28609836/beam-me-in-thyroid-hormone-analog-targets-alternative-transporter-in-mouse-model-of-x-linked-adrenoleukodystrophy
#1
Anna Milanesi, Gregory A Brent
No abstract text is available yet for this article.
April 29, 2017: Endocrinology
https://www.readbyqxmd.com/read/28601575/a-novel-mutation-in-abcd1-unveils-different-clinical-phenotypes-in-a-family-with-adrenoleukodystrophy
#2
M Margoni, F Soli, A Sangalli, M Bellizzi, E Cecchini, M Buganza
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is the consequence of mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids. We describe a family with six members carrying a novel heterozygous mutation IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene, highlighting the wide range of phenotypic manifestations of ALD and the importance of genetic screening before any pregnancy in asymptomatic women whose carrier status is unknown...
June 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28560570/effect-of-lorenzo-s-oil-on-hepatic-gene-expression-and-the-serum-fatty-acid-level-in-abcd1-deficient-mice
#3
Masashi Morita, Ayako Honda, Akira Kobayashi, Yuichi Watanabe, Shiro Watanabe, Kosuke Kawaguchi, Shigeo Takashima, Nobuyuki Shimozawa, Tsuneo Imanaka
Lorenzo's oil is known to decrease the saturated very long chain fatty acid (VLCFA) level in the plasma and skin fibroblasts of X-linked adrenoleukodystrophy (ALD) patients. However, the involvement of Lorenzo's oil in in vivo fatty acid metabolism has not been well elucidated. To investigate the effect of Lorenzo's oil on fatty acid metabolism, we analyzed the hepatic gene expression together with the serum fatty acid level in Lorenzo's oil-treated wild-type and abcd1-deficient mice. The change in the serum fatty acid level in Lorenzo's oil-treated abcd1-defcient mice was quite similar to that in the plasma fatty acid level in ALD patients supplemented with Lorenzo's oil...
May 31, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28552315/new-insights-into-adrenoleukodystrophy
#4
EDITORIAL
Steven G Pavlakis
No abstract text is available yet for this article.
July 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28534457/activation-of-cerebral-x-linked-adrenoleukodystrophy-after-head-trauma
#5
Adrian Budhram, Sachin K Pandey
No abstract text is available yet for this article.
May 23, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28524215/-novel-therapies-in-neurometabolic-diseases-the-importance-of-early-intervention
#6
L G Gutierrez-Solana
INTRODUCTION: Individually, neurometabolic diseases are ultra rare, but for some of them there is an effective treatment. DEVELOPMENT: Several recent therapeutic advances are reviewed. Today, the possibilities of treatment for lysosomal diseases have improved. In recent years the use of enzyme replacement therapy has become more widely extended to treat mucopolysaccharidosis type IVA (Morquio A), mucopolysaccharidosis type VII (Sly syndrome), lysosomal acid lipase deficiency and alpha-mannosidosis...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28493141/therapeutic-strategies-in-adrenoleukodystrophy
#7
Bela R Turk, Ann B Moser, Ali Fatemi
Adrenoleukodystrophy (ALD) is an X‑linked hereditary disorder due to mutations of the ABCD1 gene, which encodes a peroxisomal transport protein necessary for very long-chain fatty acid degradation (VLCFA). Toxic accumulation thereof is associated with a proinflammatory state and eventual cell death in multiple tissues. ALD may manifest either as a fatal, rapidly progressive demyelinating disease in boys and adult men, or as a slowly progressive adult-onset long-tract myelopathy along with peripheral neuropathy...
May 10, 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28481932/unmasking-adrenoleukodystrophy-in-a-cohort-of-cerebellar-ataxia
#8
Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong
Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene (ABCD1) were ascertained in 516 unrelated patients with ataxia. The patients were categorized into three groups: molecularly unassigned hereditary ataxia (n = 118), sporadic ataxia with autonomic dysfunctions (n = 296), and sporadic ataxia without autonomic dysfunctions (n = 102)...
2017: PloS One
https://www.readbyqxmd.com/read/28456143/a-first-case-of-adrenomyeloneuropathy-with-mutation-y174s-of-the-adrenoleukodystrophy-gene
#9
Yukio Horikawa, Mayumi Enya, Nobuaki Yoshikura, Junichi Kitagawa, Shigeo Takashima, Nobuyuki Shimozawa, Jun Takeda
The patient first noticed spasticity and weakness in his legs. He was diagnosed with chronic myelogenous leukemia (CML); the symptoms were attributed to neuropathy associated with CML. By treatment with dasatinib, he achieved complete hematological remission, but his difficulty in walking was not improved. His neurological symptom worsened together with an increase in body temperature and then disappeared together with a normalized body temperature, which may be attributed to the Uhthoff's phenomenon often observed in multiple sclerosis...
February 15, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28418523/neurocognitive-trajectory-of-boys-who-received-a-hematopoietic-stem-cell-transplant-at-an-early-stage-of-childhood-cerebral-adrenoleukodystrophy
#10
Elizabeth I Pierpont, Julie B Eisengart, Ryan Shanley, David Nascene, Gerald V Raymond, Elsa G Shapiro, Rich S Ziegler, Paul J Orchard, Weston P Miller
Importance: Untreated childhood cerebral adrenoleukodystrophy (cALD) is a fatal disease associated with progressive cerebral demyelination and rapid, devastating neurologic decline. The standard of care to enhance long-term survival and stabilize cerebral disease is a hematopoietic stem cell transplant (HSCT). Neurologic outcomes are better when HSCT occurs at an earlier stage of cALD, yet there is limited understanding of the neurocognitive trajectory of patients who undergo HSCT. Objectives: To characterize neurocognitive outcomes of boys with cALD and early-stage cerebral disease who were treated with an allogeneic HSCT and to identify disease- and treatment-related factors associated with long-term functioning...
June 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28418445/decision-making-in-adrenoleukodystrophy-when-is-a-good-outcome-really-a-good-outcome
#11
Keith Van Haren, Marc Engelen
No abstract text is available yet for this article.
April 17, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28385597/ester-to-amide-rearrangement-of-ethanolamine-derived-prodrugs-of-sobetirome-with-increased-blood-brain-barrier-penetration
#12
Skylar J Ferrara, J Matthew Meinig, Andrew T Placzek, Tapasree Banerji, Peter McTigue, Meredith D Hartley, Hannah S Sanford-Crane, Tania Banerji, Dennis Bourdette, Thomas S Scanlan
Current therapeutic options for treating demyelinating disorders such as multiple sclerosis (MS) do not stimulate myelin repair, thus creating a clinical need for therapeutic agents that address axonal remyelination. Thyroid hormone is known to play an important role in promoting developmental myelination and repair, and CNS permeable thyromimetic agents could offer an increased therapeutic index compared to endogenous thyroid hormone. Sobetirome is a clinical stage thyromimetic that has been shown to have promising activity in preclinical models related to MS and X-linked adrenoleukodystrophy (X-ALD), a genetic disease that involves demyelination...
May 15, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28375456/long-term-outcomes-of-allogeneic-haematopoietic-stem-cell-transplantation-for-adult-cerebral-x-linked-adrenoleukodystrophy
#13
Jörn-Sven Kühl, Felipe Suarez, Godfrey T Gillett, Philipp G Hemmati, John A Snowden, Michael Stadler, Giang L Vuong, Patrick Aubourg, Wolfgang Köhler, Renate Arnold
The adult cerebral inflammatory form of X-linked adrenoleukodystrophy is a rapidly progressive neurodegenerative disease, as devastating as childhood cerebral adrenoleukodystrophy. Allogeneic haematopoietic stem cell transplantation has been demonstrated to provide long-term neurological benefits for boys with the childhood cerebral form, but results in adults are sparse and inconclusive. We analysed data from 14 adult males with adult cerebral adrenoleukodystrophy treated with allogeneic haematopoietic stem cell transplantation on a compassionate basis in four European centres...
April 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28320181/ataxic-form-of-autosomal-recessive-pex10-related-peroxisome-biogenesis-disorders-with-a-novel-compound-heterozygous-gene-mutation-and-characteristic-clinical-phenotype
#14
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319253/heat-shock-protein-expression-in-cerebral-x-linked-adrenoleukodystrophy-reveals-astrocyte-stress-prior-to-myelin-loss
#15
Anna Lena Görtz, Laura A N Peferoen, Wouter H Gerritsen, Johannes M van Noort, Marianna Bugiani, Sandra Amor
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a genetic white matter disorder in which demyelination occurs due to accumulation of very long chain fatty acids. Inflammation in the brain white matter is a hallmark of the pathology of cerebral X-ALD, but the underlying pathogenic mechanisms are still largely unknown. In other inflammatory demyelinating disorders such as multiple sclerosis, the expression of heat shock proteins (HSPs) in combination with interferon-γ (IFN-γ) has been suggested to play a prominent role in the initiation of demyelination and inflammation...
March 20, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28288261/antioxidant-capacity-and-superoxide-dismutase-activity-in-adrenoleukodystrophy
#16
Bela R Turk, Benjamin E Theisen, Christina L Nemeth, Joel S Marx, Xiaohai Shi, Melissa Rosen, Richard O Jones, Ann B Moser, Paul A Watkins, Gerald V Raymond, Carol Tiffany, Ali Fatemi
Importance: X-linked adrenoleukodystrophy (ALD) may switch phenotype to the fatal cerebral form (ie, cerebral ALD [cALD]), the cause of which is unknown. Determining differences in antioxidant capacity and superoxide dismutase (SOD) levels between phenotypes may allow for the generation of a clinical biomarker for predicting the onset of cALD, as well as initiating a more timely lifesaving therapy. Objective: To identify variations in the levels of antioxidant capacity and SOD activity between ALD phenotypes in patients with cALD or adrenomyeloneuropathy (AMN), heterozygote female carriers, and healthy controls and, in addition, correlate antioxidant levels with clinical outcome scores to determine a possible predictive value...
May 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28281429/single-centre-experience-of-allogeneic-haemopoietic-stem-cell-transplant-in-paediatric-patients-in-cape-town-south-africa
#17
A Van Eyssen, N Novitsky, P De Wit, T Schlaphoff, V Thomas, D Pillay, M Hendricks, A Davidson
BACKGROUND: Allogeneic haemopoietic stem cell transplant (Allo-HSCT) is a specialised and costly intervention, associated with significant morbidity and mortality. It is used to treat a broad range of paediatric conditions. South Africa (SA) is an upper middle-income country with limitations on healthcare spending. The role of paediatric Allo-HSCT in this setting is reviewed. OBJECTIVES: To review paediatric patients who underwent Allo-HSCT at the Groote Schuur Hospital/University of Cape Town Private Academic Hospital transplant unit in Cape Town, South Africa, and received post-transplant care at Red Cross War Memorial Children's Hospital, over the period January 2006 - December 2014 in respect of indications for the transplant, donor sources, conditioning regimens, treatment-related morbidity and overall survival (OS)...
February 27, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28274546/long-term-outcome-of-patients-with-x-linked-adrenoleukodystrophy-a-retrospective-cohort-study
#18
Christel Tran, Jaina Patel, Hewson Stacy, Eva G Mamak, Hanna Faghfoury, Julian Raiman, Joe T R Clarke, Susan Blaser, Saadet Mercimek-Mahmutoglu
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder associated with leukodystrophy, myeloneuropathy and adrenocortical insufficiency. We performed a retrospective cohort study to evaluate long-term outcome of patients with X-ALD. METHOD: All patients with X-ALD diagnosed between 1989 and 2012 were included. Electronic patient charts were reviewed for clinical features, biochemical investigations, molecular genetic testing, neuroimaging, long-term outcome and treatment...
February 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28200172/a-thyroid-hormone-based-strategy-for-correcting-the-biochemical-abnormality-in-x-linked-adrenoleukodystrophy
#19
Meredith D Hartley, Lisa L Kirkemo, Tapasree Banerji, Thomas S Scanlan
X-linked adrenoleukodystrophy (X-ALD) is a rare, genetic disorder characterized by adrenal insufficiency and central nervous system (CNS) demyelination. All patients with X-ALD have the biochemical abnormality of elevated blood and tissue levels of very long chain fatty acids (VLCFAs), saturated fatty acids with 24 to 26 carbons. X-ALD results from loss of function mutations in the gene encoding the peroxisomal transporter ABCD1, which is responsible for uptake of VLCFAs into peroxisomes for degradation by oxidation...
May 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28197008/a-case-of-adrenoleukodystrophy-presenting-with-manic-symptoms-in-a-patient-on-steroids-for-addison-s-disease
#20
K S Jyothi, Cyriac George, K S Shaji
Adrenoleukodystrophy (ALD) is an X-linked disorder with diverse clinical presentations. A 30-year-old male, previously diagnosed with Addison's disease, on steroid supplementation for 18 years, presented to us with manic symptoms for 4 years. He was found to have white matter hypodensities in computed tomography head and had white matter signal changes in magnetic resonance imaging, and therefore a diagnosis of ALD was made.
October 2016: Indian Journal of Psychiatry
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