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Adrenoleukodystrophy

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https://www.readbyqxmd.com/read/28976819/optimizing-treatment-for-cerebral-adrenoleukodystrophy-in-the-era-of-gene-therapy
#1
Marc Engelen
Adrenoleukodystrophy is a peroxisomal metabolic disorder that can be manifested by rapidly progressive cerebral demyelination (known as cerebral adrenoleukodystrophy) in affected boys and men. Untreated cerebral adrenoleukodystrophy causes severe disability or death approximately 2 years after its..
October 4, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28976817/hematopoietic-stem-cell-gene-therapy-for-cerebral-adrenoleukodystrophy
#2
Florian Eichler, Christine Duncan, Patricia L Musolino, Paul J Orchard, Satiro De Oliveira, Adrian J Thrasher, Myriam Armant, Colleen Dansereau, Troy C Lund, Weston P Miller, Gerald V Raymond, Raman Sankar, Ami J Shah, Caroline Sevin, H Bobby Gaspar, Paul Gissen, Hernan Amartino, Drago Bratkovic, Nicholas J C Smith, Asif M Paker, Esther Shamir, Tara O'Meara, David Davidson, Patrick Aubourg, David A Williams
Background In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. Disease progression, which leads to loss of neurologic function and death, can be halted only with allogeneic hematopoietic stem-cell transplantation. Methods We enrolled boys with cerebral adrenoleukodystrophy in a single-group, open-label, phase 2-3 safety and efficacy study. Patients were required to have early-stage disease and gadolinium enhancement on magnetic resonance imaging (MRI) at screening...
October 4, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28964670/intrathecal-baclofen-treatment-an-option-in-x-linked-adrenoleukodystrophy
#3
Helgi Thor Hjartarson, Christoffer Ehrstedt, Kristina Tedroff
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic peroxisomal disorder associated with tissue accumulation of very long chain fatty acids (VLCFAs). In approximately one third of affected males, this causes progressive and irreversible damage to the brain white matter. Progress is often rapid with upper motor neuron damage leading to severe spasticity and dystonia. The increased muscle tone is frequently difficult to alleviate with oral drugs. Here, we describe two patients with X-ALD who have received treatment with intrathecal baclofen pumps (ITB)...
September 14, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28934891/quality-of-life-among-boys-with-adrenoleukodystrophy-following-hematopoietic-stem-cell-transplant
#4
Nicole B Beckmann, Weston P Miller, Mary S Dietrich, Paul J Orchard
Hematopoietic stem cell transplant (HSCT) is the only accepted treatment capable of halting the progression of X-linked cerebral adrenoleukodystrophy (CALD). While survival and neurological outcomes have been described, there is little information regarding the quality of life (QoL) of transplanted patients with CALD. This analysis is a cross-sectional study of QoL in 16 males diagnosed with CALD who underwent HSCT at a single institution. Each child or parent proxy completed subscales from the Neuro-QoL and the PROMIS Pediatric Profile Instrument representing physical, mental, and social health domains...
September 21, 2017: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
https://www.readbyqxmd.com/read/28919002/x-linked-adrenoleukodystrophy-in-a-chimpanzee-due-to-an-abcd1-mutation-reported-in-multiple-unrelated-humans
#5
Julian Curiel, Steven Jeffrey Steinberg, Sarah Bright, Ann Snowden, Ann B Moser, Florian Eichler, Holly A Dubbs, Joseph G Hacia, John J Ely, Jocelyn Bezner, Alisa Gean, Adeline Vanderver
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder leading to the accumulation of very long chain fatty acids (VLCFA) due to a mutation in the ABCD1 gene. ABCD1 mutations lead to a variety of phenotypes, including cerebral X-ALD and adrenomyeloneuropathy (AMN) in affected males and 80% of carrier females. There is no definite genotype-phenotype correlation with intrafamilial variability. Cerebral X-ALD typically presents in childhood, but can also present in juveniles and adults...
September 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28911205/a-zebrafish-model-of-x-linked-adrenoleukodystrophy-recapitulates-key-disease-features-and-demonstrates-a-developmental-requirement-for-abcd1-in-oligodendrocyte-patterning-and-myelination
#6
Lauren R Strachan, Tamara J Stevenson, Briana Freshner, Matthew D Keefe, D Miranda Bowles, Joshua L Bonkowsky
X-linked adrenoleukodystrophy (ALD) is a devastating inherited neurodegenerative disease caused by defects in the ABCD1 gene and affecting peripheral and central nervous system myelin. ABCD1 encodes a peroxisomal transmembrane protein required for very long chain fatty acid (VLCFA) metabolism. We show that zebrafish (Danio rerio) Abcd1 is highly conserved at the amino acid level with human ABCD1, and during development is expressed in homologous regions including the central nervous system and adrenal glands...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28895702/-x-linked-adrenoleukodystrophy-a-report-of-three-cases-the-importance-of-early-diagnosis
#7
Marta López Úbeda, Antonio de Arriba Muñoz, Marta Ferrer Lozano, José I Labarta Aizpún, María C García Jiménez
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28739201/neonatal-detection-of-aicardi-gouti%C3%A3-res-syndrome-by-increased-c26-0-lysophosphatidylcholine-and-interferon-signature-on-newborn-screening-blood-spots
#8
Thais Armangue, Joseph J Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick, Mark A Morrissey, Norah Nahhas, Guy Helman, Heather Gordish-Dressman, Simona Orcesi, Davide Tonduti, Chloe Stutterd, Keith van Haren, Camilo Toro, Alejandro D Iglesias, Marjo S van der Knaap, Raphaela Goldbach Mansky, Anne B Moser, Richard O Jones, Adeline Vanderver
BACKGROUND: Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy associated with systemic autoinflammation causing interferon (IFN) elevation, central nervous system calcifications, leukodystrophy and severe neurologic sequelae. An infant with TREX1 mutations was recently found to have abnormal C26:0 lysophosphatidylcholine (C26:0 Lyso-PC) in a newborn screening platform for X-linked adrenoleukodystrophy, prompting analysis of this analyte in retrospectively collected samples from individuals affected by AGS...
July 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28737695/predictive-structure-and-topology-of-peroxisomal-atp-binding-cassette-abc-transporters
#9
Pierre Andreoletti, Quentin Raas, Catherine Gondcaille, Mustapha Cherkaoui-Malki, Doriane Trompier, Stéphane Savary
The peroxisomal ATP-binding Cassette (ABC) transporters, which are called ABCD1, ABCD2 and ABCD3, are transmembrane proteins involved in the transport of various lipids that allow their degradation inside the organelle. Defective ABCD1 leads to the accumulation of very long-chain fatty acids and is associated with a complex and severe neurodegenerative disorder called X-linked adrenoleukodystrophy (X-ALD). Although the nucleotide-binding domain is highly conserved and characterized within the ABC transporters family, solid data are missing for the transmembrane domain (TMD) of ABCD proteins...
July 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28725571/application-of-a-diagnostic-methodology-by-quantification-of-26-0-lysophosphatidylcholine-in-dried-blood-spots-for-japanese-newborn-screening-of-x-linked-adrenoleukodystrophy
#10
Chen Wu, Takeo Iwamoto, Junko Igarashi, Takashi Miyajima, Mohammad Arif Hossain, Hiroko Yanagisawa, Keiko Akiyama, Haruo Shintaku, Yoshikatsu Eto
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease that results in the accumulation of very long chain fatty acids (VLCFA) in plasma and all tissues. Recent studies regarding cerebral X-ALD (CALD) treatment emphasize the importance of its early diagnosis. 26:0 lysophosphatidylcholine (LysoPC) is a sensitive biomarker for newborn screening of X-ALD, while its application for Japanese DBS is unclear. Therefore, we evaluated the feasibility of 20:0 LysoPC and 24:0 LysoPC along with 26:0 LysoPC for diagnosing X-ALD in a cohort of newborns (n = 604), healthy adults (n = 50) and patients (n = 4)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28722826/inflammatory-profile-in-x-linked-adrenoleukodystrophy-patients-understanding-disease-progression
#11
Desirèe Padilha Marchetti, Bruna Donida, Carlos Eduardo Jacques, Marion Deon, Tatiane Cristina Hauschild, Patricia Koehler-Santos, Daniella de Moura Coelho, Adriana Simon Coitinho, Laura Bannach Jardim, Carmen Regla Vargas
X-linked adrenoleukodystrophy (X-ALD) is an inherited disease characterized by progressive inflammatory demyelization in the brain, adrenal insufficiency, and an abnormal accumulation of very long chain fatty acids (VLCFA) in tissue and body fluids. Considering that inflammation might be involved in pathophysiology of X-ALD, we aimed to investigate pro- and anti-inflammatory cytokines in plasma from three different male phenotypes (CCER, AMN, and asymptomatic individuals). Our results showed that asymptomatic patients presented increased levels of pro-inflammatory cytokines IL-1β, IL-2, IL-8, and TNF-α and the last one was also higher in AMN phenotype...
July 19, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28666219/lipid-induced-endoplasmic-reticulum-stress-in-x-linked-adrenoleukodystrophy
#12
Malu-Clair van de Beek, Rob Ofman, Inge Dijkstra, Frits Wijburg, Marc Engelen, Ronald Wanders, Stephan Kemp
X-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease that is caused by mutations in the ABCD1 gene and characterized by elevated levels of very long-chain fatty acids (VLCFA) in plasma and tissues, with the most pronounced increase in the central nervous system. Virtually all male patients develop adrenal insufficiency and myelopathy (adrenomyeloneuropathy), but a subset develops a fatal cerebral demyelinating disease (known as cerebral ALD). Female patients may also develop myelopathy, but adrenal insufficiency or leukodystrophy are very rare...
June 27, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28609836/beam-me-in-thyroid-hormone-analog-targets-alternative-transporter-in-mouse-model-of-x-linked-adrenoleukodystrophy
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
June 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28481932/unmasking-adrenoleukodystrophy-in-a-cohort-of-cerebellar-ataxia
#20
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
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