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https://www.readbyqxmd.com/read/29740390/a-novel-variant-in-abcd1-gene-presenting-as-adolescent-onset-atypical-adrenomyeloneuropathy-with-spastic-ataxia
#1
Yanxing Chen, Jianfang Zhang, Jianwen Wang, Kang Wang
X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients. Here, we report a family with unusual presentation of X-ALD. The 19-year-old proband had presented with atypical symptoms of adrenomyeloneuropathy (AMN) for 3 years, only with spastic paraparesis, cerebellar ataxia, and cerebellar atrophy with white matter hyperintensity...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29739804/etiology-and-treatment-of-adrenoleukodystrophy-new-insights-from-drosophila
#2
Hannah B Gordon, Lourdes Valdez, Anthea Letsou
Adrenoleukodystrophy (ALD) is a fatal progressive neurodegenerative disorder affecting brain white matter. The most common form of ALD is X-linked (X-ALD) and results from mutation of the ABCD1 -encoded very long chain fatty acid (VLCFA) transporter. X-ALD is clinically heterogeneous, with the cerebral form being the most severe. Diagnosed in boys usually between the ages of 4 and 8, cerebral X-ALD symptoms progress rapidly (in as little as two years) through declines in cognition, learning, and behavior, to paralysis and ultimately to a vegetative state and death...
May 8, 2018: Disease Models & Mechanisms
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
#3
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/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/29476661/epigenomic-signature-of-adrenoleukodystrophy-predicts-compromised-oligodendrocyte-differentiation
#5
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
#6
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...
January 2018: Lipids
https://www.readbyqxmd.com/read/29428736/whole-genome-sequencing-identifies-novel-notch3-mutations-for-leukoaraiosis
#7
Wen-Lei Shi, Yong-Biao Zhang, Wei Wei, Hong-Yan Gao, Yong-Hua Huang
BACKGROUND: Leukoaraiosis, a subtype of cerebral small vessel disease, is a common condition found on CT or MRI in elderly people. Leukoaraiosis is strongly associated with cognitive impairment, mental abnormality, gait disorders and urinary dysfunction. However, the genetic risk of leukoaraiosis is largely unknown. OBJECTIVE: The goal of this study is to identify the loss-of-function mutations for leukoaraiosis in Chinese. METHODS: We performed whole-genome sequencing on 11 leukoaraiosis patients and further validated the candidate mutations and tags of the candidate genes in 304 individuals including 160 patients and 144 healthy controls using Sequenom MassARRAY platform...
February 8, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29397936/characterization-of-human-atp-binding-cassette-protein-subfamily-d-reconstituted-into-proteoliposomes
#8
Takumi Okamoto, Kosuke Kawaguchi, Shiro Watanabe, Rina Agustina, Toshiki Ikejima, Keisuke Ikeda, Minoru Nakano, Masashi Morita, Tsuneo Imanaka
In mammals, four ATP-binding cassette (ABC) proteins belonging to subfamily D have been identified. ABCD1‒3 are located on peroxisomal membrane and play an important role in the transportation of various fatty acid-CoA derivatives, including very long chain fatty acid-CoA, into peroxisomes. ABCD4 is located on lysosomal membrane and is suggested to be involved in the transport of vitamin B12 from lysosomes to the cytosol. However, the precise transport mechanism by which these ABC transporters facilitate the import or export of substrate has yet to be well elucidated...
February 19, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29386416/childhood-cerebral-x-linked-adrenoleukodystrophy-with-atypical-neuroimaging-abnormalities-and-a-novel-mutation
#9
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/29284317/autonomic-dysfunction-in-a-patient-with-x-linked-adrenoleukodystrophy
#10
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/29243459/adrenomyeloneuropathy-due-to-mutation-in-the-abcd1-gene-as-underlying-factor-in-spastic-paraparesis
#11
Emil Ylikallio, Elisa Rahikkala, Riikka Keski-Filppula, Mari Auranen, Henna Tyynismaa
We present a Finnish family in which adrenomyeloneuropathy (AMN) caused by the mutation in the ABCD1 gene was revealed as the cause of spastic paraparesis. . Two patients had hypoadrenalism, which is in some cases some associated with the disease . AMN is a hereditary disease manifested both in men and women. but owing to the location of the gene in the X chromosome the symptoms are usually more severe in male patients. . Diagnoses was trucked down with gene-panel sequencing and confirmed through detection of an elevated level of very long-chain fatty acids in the serum of the patients...
2017: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/29152099/s149r-a-novel-mutation-in-the-abcd1-gene-causing-x-linked-adrenoleukodystrophy
#12
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
#13
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...
December 1, 2017: Brain: a Journal of Neurology
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
#14
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...
December 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29116030/management-of-x-linked-adrenoleukodystrophy-in-morocco-actual-situation
#15
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/29089175/comparison-of-c26-0-carnitine-and-c26-0-lysophosphatidylcholine-as-diagnostic-markers-in-dried-blood-spots-from-newborns-and-patients-with-adrenoleukodystrophy
#16
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...
December 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
#17
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.
December 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29059709/microglial-dysfunction-as-a-key-pathological-change-in-adrenomyeloneuropathy
#18
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/28976817/hematopoietic-stem-cell-gene-therapy-for-cerebral-adrenoleukodystrophy
#19
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/28919002/x-linked-adrenoleukodystrophy-in-a-chimpanzee-due-to-an-abcd1-mutation-reported-in-multiple-unrelated-humans
#20
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...
November 2017: Molecular Genetics and Metabolism
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