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Adrenoleukodystrophy

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https://www.readbyqxmd.com/read/29201369/x-linked-adult-onset-adrenoleukodystrophy-psychiatric-and-neurological-manifestations
#1
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
#2
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
https://www.readbyqxmd.com/read/29175874/psychiatric-disease-in-an-adolescent-as-a-harbinger-of-cerebral-x-linked-adrenoleukodystrophy
#3
Jessica Smith, Mitchel T Williams, Vinod K Misra
X-linked adrenoleukodystrophy (XALD) typically presents as a childhood cerebral demyelinating form, as an adult-onset adrenomyeloneuropathy or as adrenocortical insufficiency. Cerebral demyelination presenting in adolescence is unusual. We present an 17-year-old boy with adolescent-onset XALD initially manifesting with slowly progressive psychiatric symptoms. He was initially diagnosed with attention-deficit hyperactivity disorder and an acute psychosis. However, he was ultimately diagnosed with XALD based on his clinical course, neuroimaging findings and biochemical abnormalities...
November 24, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29152099/s149r-a-novel-mutation-in-the-abcd1-gene-causing-x-linked-adrenoleukodystrophy
#4
Fang Yan, Wenbo Wang, Hui Ying, Hongyu Li, Jing Chen, Chao Xu
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very long-chain fatty acids. For the first time, we report a case of olivopontocerebellar X-ALD on the Chinese mainland. In this study, a novel mutation (c.447T>A; p.S149R) in ABCD1 was detected in a patient diagnosed with X-ALD...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29136088/abcd1-dysfunction-alters-white-matter-microvascular-perfusion
#5
Arne Lauer, Xiao Da, Mikkel Bo Hansen, Gregoire Boulouis, Yangming Ou, Xuezhu Cai, Afonso Liberato Celso Pedrotti, Jayashree Kalpathy-Cramer, Paul Caruso, Douglas L Hayden, Natalia Rost, Kim Mouridsen, Florian S Eichler, Bruce Rosen, Patricia L Musolino
Cerebral X-linked adrenoleukodystrophy is a devastating neurodegenerative disorder caused by mutations in the ABCD1 gene, which lead to a rapidly progressive cerebral inflammatory demyelination in up to 60% of affected males. Selective brain endothelial dysfunction and increased permeability of the blood-brain barrier suggest that white matter microvascular dysfunction contributes to the conversion to cerebral disease. Applying a vascular model to conventional dynamic susceptibility contrast magnetic resonance perfusion imaging, we demonstrate that lack of ABCD1 function causes increased capillary flow heterogeneity in asymptomatic hemizygotes predominantly in the white matter regions and developmental stages with the highest probability for conversion to cerebral disease...
November 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29132975/a-novel-temporal-pattern-of-childhood-cerebral-x-linked-adrenoleukodystrophy
#6
Emanuela C Turco, Francesca Ormitti, Anna Andreolli, Marina Barsacchi, Carlotta Facini, Francesco Pisani
We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep. Behavioural impairment has been observed since the previous five months. Magnetic Resonance Images (MRI) revealed isolated bilateral, symmetric, confluent temporal white matter lesions involving also corticospinal tracts, with sparing of the parieto-occipital and frontal white matter. This report outlines an atypical neuroradiological localization of X-linked adrenoleukodystrophy and neuropsychological findings not specifically related to the brain involvement seen at the MRI...
November 10, 2017: Brain & Development
https://www.readbyqxmd.com/read/29128817/generation-of-induced-pluripotent-stem-cell-ipsc-line-from-a-21-year-old-x-linked-adrenoleukodystrophy-x-ald-patient
#7
Young Rang You, Daryeon Son, Phil Jun Kang, Seungkwon You, Dae-Sung Kim
X-linked Adrenoleukodystrophy (X-ALD) is a genetic disease that caused by mutations in adenosine triphosphate [ATP]-binding-cassette transporter superfamily D member 1 (ABCD1) gene. We generated an induced pluripotent stem cell (iPSC) line from a 21-year-old male X-ALD patient-derived fibroblasts by Sendai virus mediated reprogramming. Established iPSCs stably expanded while maintaining immunoreactivity for various pluripotency markers and alkaline phosphatase, as well as normal 44+XY karyotype. Under the differentiation condition, the cells gave rise to cells of three germ layers...
November 9, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29116030/management-of-x-linked-adrenoleukodystrophy-in-morocco-actual-situation
#8
F Z Madani Benjelloun, Y Kriouile, D Cheillan, H Daoud-Tetouani, L Chabraoui
OBJECTIVES: X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of the first program of diagnosis, treatment, and follow-up of this disease in Morocco. RESULTS: We developed three protocols of X-linked Adrenoleukodystrophy management: general protocol, asymptomatic protocol, and heterozygous protocol...
November 7, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29097134/clinical-course-and-long-term-outcome-in-children-with-alteration-of-consciousness-underwent-continuous-eeg-monitoring-a-prospective-observational-study-in-thailand
#9
Thitiporn Fangsaad, Siriluk Assawabumrungkul, Anannit Visudtibhan
The study aims to explore the clinical course and long-term outcome in children with altered consciousness who underwent cEEG monitoring. A prospective observational study was conducted in neonatal and pediatric intensive care units from 1 September 2014 through 31 March 2017. Standard 10-20 cEEG monitoring was applied. Twenty children were included in this study. Their ages ranged from 1 day to 142.7 months (median age 40.6 months). Continuous EEG was commenced from 5 h to 5 days after the onset of alteration of consciousness (median 40...
October 30, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29089175/comparison-of-c26-0-carnitine-and-c26-0-lysophosphatidylcholine-as-diagnostic-markers-in-dried-blood-spots-from-newborns-and-patients-with-adrenoleukodystrophy
#10
Irene C Huffnagel, Malu-Clair van de Beek, Amanda L Showers, Joseph J Orsini, Femke C C Klouwer, Inge M E Dijkstra, Peter C Schielen, Henk van Lenthe, Ronald J A Wanders, Frédéric M Vaz, Mark A Morrissey, Marc Engelen, Stephan Kemp
X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth incidence of 1:14,700 live births. The disease is caused by mutations in ABCD1 and characterized by very long-chain fatty acids (VLCFA) accumulation. In childhood, male patients are at high-risk to develop adrenal insufficiency and/or cerebral demyelination. Timely diagnosis is essential. Untreated adrenal insufficiency can be life-threatening and hematopoietic stem cell transplantation is curative for cerebral ALD provided the procedure is performed in an early stage of the disease...
October 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29065337/generation-of-two-induced-pluripotent-stem-cell-ipsc-lines-from-x-linked-adrenoleukodystrophy-x-ald-patients-with-adrenomyeloneuropathy-amn
#11
Daryeon Son, Zhejiu Quan, Phil Jun Kang, Gyuman Park, Hoon-Chul Kang, Seungkwon You
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene. We generated two induced pluripotent stem cell (iPSC) lines from X-ALD patients with adrenomyeloneuropathy (AMN) by Sendai virus containing OCT4, SOX2, KLF4 and c-MYC. Established iPSC lines expressed various pluripotency markers, had differentiation potential of three germ layers in vitro, had normal karyotype and retained ABCD1 mutation.
October 12, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29064470/neurometabolic-disease-gene-therapy-success-for-cerebral-adrenoleukodystrophy
#12
Charlotte Ridler
No abstract text is available yet for this article.
October 23, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29059709/microglial-dysfunction-as-a-key-pathological-change-in-adrenomyeloneuropathy
#13
Yi Gong, Nikhil Sasidharan, Fiza Laheji, Matthew Frosch, Patricia Musolino, Rudy Tanzi, Doo Yeon Kim, Alessandra Biffi, Joseph El Khoury, Florian Eichler
OBJECTIVE: Mutations in ABCD1 cause the neurodegenerative disease, adrenoleukodystrophy, which manifests as the spinal cord axonopathy adrenomyeloneuropathy (AMN) in nearly all males surviving into adulthood. Microglial dysfunction has long been implicated in pathogenesis of brain disease, but its role in the spinal cord is unclear. METHODS: We assessed spinal cord microglia in humans and mice with AMN and investigated the role of ABCD1 in microglial activity toward neuronal phagocytosis in cell culture...
November 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29056270/primary-adrenal-insufficiency-due-to-x-linked-adrenoleukodystrophy-diagnosed-in-adulthood
#14
Guillermo Serra Soler, María Soledad Gogorza Pérez, Ana Jiménez Portilla, Vicente Pereg Macazaga
No abstract text is available yet for this article.
October 2017: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/28976819/optimizing-treatment-for-cerebral-adrenoleukodystrophy-in-the-era-of-gene-therapy
#15
EDITORIAL
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 26, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28976817/hematopoietic-stem-cell-gene-therapy-for-cerebral-adrenoleukodystrophy
#16
MULTICENTER STUDY
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...
October 26, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28964670/intrathecal-baclofen-treatment-an-option-in-x-linked-adrenoleukodystrophy
#17
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
#18
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
#19
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
#20
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
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