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https://www.readbyqxmd.com/read/29676204/neuromyelitis-optica-spectrum-disorder-mimicking-extensive-leukodystrophy
#1
Jonathan Ciron, Olivier Colin, Marie-Pierre Rosier, Soline Lapeyrie, Damien Biotti, David Brassat, Jean-Philippe Neau
Brain MRI was originally considered to appear normal in neuromyelitis optica spectrum disorders (NMO-SD). Typical brain lesions are now well described and have been integrated in the latest revision of NMO-SD criteria, but the NMO-SD MRI pattern remains not yet comprehensive. We report here extensive white matter lesions (EWML) mimicking leukodystrophy in a 50-year-old woman with long-lasting anti-AQP4+ NMO-SD. We suggest that EWML could be a possible brain MRI presentation of NMO-SD patients.
April 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29672630/nonclinical-comparability-studies-of-recombinant-human-arylsulfatase-a-addressing-manufacturing-process-changes
#2
Teresa Wright, Aiqun Li, Jason Lotterhand, Anne-Renee Graham, Yan Huang, Nancy Avila, Jing Pan
Recombinant human arylsulfatase A (rhASA) is in clinical development for the treatment of patients with metachromatic leukodystrophy (MLD). Manufacturing process changes were introduced to improve robustness and efficiency, resulting in higher levels of mannose-6-phosphate and sialic acid in post-change (process B) compared with pre-change (process A) rhASA. A nonclinical comparability program was conducted to compare process A and process B rhASA. All doses were administered intrathecally. Pharmacodynamic comparability was evaluated in immunotolerant MLD mice, using immunohistochemical staining of lysosomal-associated membrane protein-1 (LAMP-1)...
2018: PloS One
https://www.readbyqxmd.com/read/29666464/an-adolescence-onset-male-leukoencephalopathy-with-remarkable-cerebellar-atrophy-and-novel-compound-heterozygous-aars2-gene-mutations-a-case-report
#3
Qing Dong, Ling Long, Yan-Yu Chang, Yan-Jun Lin, Mei Liu, Zheng-Qi Lu
Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2; OMIM 612035) have been linked to leukoencephalopathy recently. Until now, there have been only 13 cases reported in the literature. Hence, the clinical and genetic characteristics of this disease are not fully understood. Here, we reported an adolescence-onset male leukoencephalopathy patient characterized by progressive limb tremor at the age of 17 years. He had no signs of a cardiomyopathy. Magnetic resonance imaging scanning demonstrated severe cerebellar atrophy and white matter abnormalities involving descending tracts...
April 17, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29661901/megalencephalic-leukoencephalopathy-with-subcortical-cysts-characterization-of-disease-variants
#4
Eline M C Hamilton, Pinar Tekturk, Fia Cialdella, Diane F van Rappard, Nicole I Wolf, Cengiz Yalcinkaya, Ümran Çetinçelik, Ahmad Rajaee, Ariana Kariminejad, Justyna Paprocka, Zuhal Yapici, Vlatka Mejaški Bošnjak, Marjo S van der Knaap
OBJECTIVE: To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features. METHODS: We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review...
April 17, 2018: Neurology
https://www.readbyqxmd.com/read/29618326/a-novel-homozygous-mutation-in-polr3a-gene-causing-4h-syndrome-a-case-report
#5
Vishal V Tewari, Ritu Mehta, C M Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern...
April 4, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29615866/expression-pattern-of-the-aspartyl-trna-synthetase-dars-in-the-human-brain
#6
Dominik Fröhlich, Alexandra K Suchowerska, Carola Voss, Ruojie He, Ernst Wolvetang, Georg von Jonquieres, Cas Simons, Thomas Fath, Gary D Housley, Matthias Klugmann
Translation of mRNA into protein is an evolutionarily conserved, fundamental process of life. A prerequisite for translation is the accurate charging of tRNAs with their cognate amino acids, a reaction catalyzed by specific aminoacyl-tRNA synthetases. One of these enzymes is the aspartyl-tRNA synthetase DARS, which pairs aspartate with its corresponding tRNA. Missense mutations of the gene encoding DARS result in the leukodystrophy hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) with a distinct pattern of hypomyelination, motor abnormalities, and cognitive impairment...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29613898/hereditary-myelopathies
#7
Peter Hedera
PURPOSE OF REVIEW: Hereditary myelopathies are very diverse genetic disorders, and many of them represent a widespread neurodegenerative process rather than isolated spinal cord dysfunction. This article reviews various types of inherited myelopathies, with emphasis on hereditary spastic paraplegias and spastic ataxias. RECENT FINDINGS: The ever-growing number of myelopathy-causing genes and broadening of phenotype-genotype correlations makes the molecular diagnosis of inherited myelopathies a daunting task...
April 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29577824/cavitating-leukoencephalopathy-with-posterior-predominance-caused-by-a-deletion-in-the-apopt1-gene-in-an-indian-boy
#8
Suvasini Sharma, Preeti Singh, Erika Fernandez-Vizarra, Massimo Zeviani, Marjo S Van der Knaap, Ravindra Kumar Saran
A 5-year-old Indian boy presented with subacute onset regression of milestones associated with seizures and spasticity. The symptoms started after an attack of measles. The magnetic resonance imaging (MRI) of the brain showed cavitating leukodystrophy with posterior predominance. Molecular analysis of the APOPT1 gene, a recently described gene associated with mitochondrial leukodystrophy, showed the patient to be homozygous for a 12.82-kilobase deletion, including coding exon 3. Deletion of exon 3 produces a frameshift, predicting the translation of a truncated protein (p...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29576217/bi-allelic-mutations-in-eprs-encoding-the-glutamyl-prolyl-aminoacyl-trna-synthetase-cause-a-hypomyelinating-leukodystrophy
#9
Marisa I Mendes, Mariana Gutierrez Salazar, Kether Guerrero, Isabelle Thiffault, Gajja S Salomons, Laurence Gauquelin, Luan T Tran, Diane Forget, Marie-Soleil Gauthier, Quinten Waisfisz, Desiree E C Smith, Cas Simons, Marjo S van der Knaap, Iris Marquardt, Aida Lemes, Hanna Mierzewska, Bernhard Weschke, Wolfgang Koehler, Benoit Coulombe, Nicole I Wolf, Geneviève Bernard
Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development. They are diagnosed on the basis of both clinical and MRI features followed by genetic confirmation. Here, we report on four unrelated affected individuals with hypomyelination and bi-allelic pathogenic variants in EPRS, the gene encoding cytoplasmic glutamyl-prolyl-aminoacyl-tRNA synthetase. EPRS is a bifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species...
March 15, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29552364/clinical-relapses-of-atypical-hus-on-eculizumab-clinical-gap-for-monitoring-and-individualised-therapy
#10
Chia Wei Teoh, Kathleen Mary Gorman, Bryan Lynch, Timothy H J Goodship, Niamh Marie Dolan, Mary Waldron, Michael Riordan, Atif Awan
Atypical hemolytic uremic syndrome (aHUS) is caused by dysregulation of the complement system. A humanised anti-C5 monoclonal antibody (eculizumab) is available for the treatment of aHUS. We present the first description of atypical HUS in a child with a coexistent diagnosis of a POL-III leukodystrophy. On standard eculizumab dosing regime, there was evidence of ongoing C5 cleavage and clinical relapses when immunologically challenged. Eculizumab is an effective therapy for aHUS, but the recommended doses may not be adequate for all patients, highlighting the need for ongoing efforts to develop a strategy for monitoring of treatment efficacy and potential individualisation of therapy...
2018: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29544907/mendelian-adult-onset-leukodystrophy-genes-in-alzheimer-s-disease-critical-influence-of-csf1r-and-notch3
#11
Celeste Sassi, Michael A Nalls, Perry G Ridge, Jesse R Gibbs, Michelle K Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, Sonja Blumenau, Mareike Thielke, Christa Josties, Dorette Freyer, Annette Dietrich, Monia Hammer, Michael Baier, Ulrich Dirnagl, Kevin Morgan, John F Powell, John S Kauwe, Carlos Cruchaga, Alison M Goate, Andrew B Singleton, Rita Guerreiro, Angela Hodges, John Hardy
Mendelian adult-onset leukodystrophies are a spectrum of rare inherited progressive neurodegenerative disorders affecting the white matter of the central nervous system. Among these, cerebral autosomal dominant and recessive arteriopathy with subcortical infarcts and leukoencephalopathy, cerebroretinal vasculopathy, metachromatic leukodystrophy, hereditary diffuse leukoencephalopathy with spheroids, and vanishing white matter disease present with rapidly progressive dementia as dominant feature and are caused by mutations in NOTCH3, HTRA1, TREX1, ARSA, CSF1R, EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5, respectively...
February 2, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29502391/kearns-sayre-syndrome-with-facial-and-white-matter-extensive-involvement-a-mitochondrial-and-nuclear-gene-related-neurocristopathy
#12
Agostino Berio, Attilia Piazzi, Carlo Enrico Traverso
The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC) of facial structures (cartilagineous, osseous, vascular and of the peripheral nervous system) and of peripheral glia and partially of the CNS white matter are underlined and the facial and glial abnormalities are attributed to the abnormal reproduction/migration of NCC...
December 15, 2017: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
https://www.readbyqxmd.com/read/29494779/gallbladder-polyps-in-metachromatic-leukodystrophy
#13
Saeeda Almarzooqi, Asif Quadri, Alia Albawardi
BACKGROUND: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease, caused by a deficiency of arylsulfatase A, and leads to demyelination of the nervous system. A putative association between MLD and gallbladder pathology including malignancy is documented in the medical literature. CASE REPORT: A 10-year-old boy with MLD was found to have a papillary growth within a cystically dilated gallbladder. The lesion was confirmed to be papillomatosis/polyp with focal intestinal metaplasia...
March 1, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29479774/hematopoietic-stem-cell-transplantation-in-late-onset-krabbe-disease-no-evidence-of-worsening-demyelination-and-axonal-loss-4-years-post-allograft
#14
Cornelia Laule, Irene M Vavasour, Elham Shahinfard, Burkhard Mädler, Jing Zhang, David K B Li, Alex L MacKay, Sandra M Sirrs
BACKGROUND AND PURPOSE: Late-onset adult Krabbe disease is a very rare demyelinating leukodystrophy, affecting less than 1 in a million people. Hematopoietic stem cell transplantation (HSCT) strategies can stop the accumulation of toxic metabolites that damage myelin-producing cells. We used quantitative advanced imaging metrics to longitudinally assess the impact of HSCT on brain abnormalities in adult-onset Krabbe disease. METHODS: A 42-year-old female with late-onset Krabbe disease and an age/sex-matched healthy control underwent annual 3T MRI (baseline was immediately prior to HSCT for the Krabbe subject)...
February 26, 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/29478607/the-spectrum-of-adult-onset-heritable-white-matter-disorders
#15
Guy Helman, Sunita Venkateswaran, Adeline Vanderver
Unique clinical presentations and magnetic resonance imaging patterns can help differentiate the various adult presentations of leukodystrophies and leukoencephalopathies. White-matter disorders are genetically based disorders affecting the central nervous system white matter, with or without peripheral nervous system involvement. These disorders predominantly affect patients in the pediatric population; however, a number of classic leukodystrophies can present in adulthood. Disease progression can be of variable onset with a broad range of symptoms, usually progressing from cognitive dysfunction...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29468668/myelin-oligodendrocyte-glycoprotein-and-aquaporin-4-antibodies-are-highly-specific-in-children-with-acquired-demyelinating-syndromes
#16
Sophie Duignan, Sukhvir Wright, Tom Rossor, John Cazabon, Kimberly Gilmour, Olga Ciccarelli, Evangeline Wassmer, Ming Lim, Cheryl Hemingway, Yael Hacohen
AIM: Our objectives were to evaluate the utility of measuring myelin oligodendrocyte glycoprotein (MOG) and aquaporin-4 (AQP4) antibodies (Ab) in clinical practice and describe their associated neurological phenotypes in children. METHOD: Between 2012 and 2017, 371 children with suspected acquired demyelinating syndromes (ADS) seen in three tertiary centres were tested for MOG-Ab and AQP4-Ab. Medical notes were retrospectively reviewed, and clinical and demographic data compiled...
February 22, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29466841/seizures-and-disturbed-brain-potassium-dynamics-in-the-leukodystrophy-mlc
#17
Mohit Dubey, Eelke Brouwers, Eline M C Hamilton, Oliver Stiedl, Marianna Bugiani, Henner Koch, Maarten H P Kole, Ursula Boschert, Robert C Wykes, Huibert D Mansvelder, Marjo S van der Knaap, Rogier Min
OBJECTIVE: Loss of function of the astrocyte-specific protein MLC1 leads to the childhood onset leukodystrophy "megalencephalic leukoencephalopathy with subcortical cysts" (MLC). Studies on isolated cells show a role for MLC1 in astrocyte volume regulation and suggest that disturbed brain ion and water homeostasis is central to the disease. Excitability of neuronal networks is particularly sensitive to ion and water homeostasis. In line with this, reports of seizures and epilepsy in MLC patients exist...
February 21, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29465562/subacute-onset-leukodystrophy-and-visual-spatial-disorders-revealing-phenylketonuria-combined-with-homocysteinmia-in-adulthood-a-case-report
#18
Chunchen Wang, Jieying Li
RATIONALE: Phenylketonuria (PKU) is a metabolic disorder, which manifests a progressive irreversible neurological impairment during infancy and childhood. Hyperhomocysteinemia also showed that it might be involved in pathophysiology of many neuropsychiatric disorders. The late-onset clinical manifestations of these 2 diseases have not been reported elsewhere. We speculated that the late-onset PKU is caused by 2 kinds of metabolic dysfunction synergistically, especially a short period of irregular diet directly caused clinical symptoms...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29456021/brain-nat8l-knockdown-suppresses-spongiform-leukodystrophy-in-an-aspartoacylase-deficient-canavan-disease-mouse-model
#19
Peter Bannerman, Fuzheng Guo, Olga Chechneva, Travis Burns, Xiaoqing Zhu, Yan Wang, Bokyung Kim, Naveen K Singhal, Jennifer A McDonough, David Pleasure
Canavan disease, a leukodystrophy caused by loss-of-function ASPA mutations, is characterized by brain dysmyelination, vacuolation, and astrogliosis ("spongiform leukodystrophy"). ASPA encodes aspartoacylase, an oligodendroglial enzyme that cleaves the abundant brain amino acid N-acetyl-L-aspartate (NAA) to L-aspartate and acetate. Aspartoacylase deficiency results in a 50% or greater elevation in brain NAA concentration ([NAAB ]). Prior studies showed that homozygous constitutive knockout of Nat8l, the gene encoding the neuronal NAA synthesizing enzyme N-acetyltransferase 8-like, prevents aspartoacylase-deficient mice from developing spongiform leukodystrophy...
January 10, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29451896/hypomyelinating-disorders-in-china-the-clinical-and-genetic-heterogeneity-in-119-patients
#20
Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang
OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population. METHODS: 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated based on their history, clinical manifestation, laboratory examinations, series of brain MRI with follow-up, genetic etiological tests including chromosomal analysis, multiplex ligation probe amplification, Sanger sequencing, targeted enrichment-based next-generation sequencing and whole exome sequencing...
2018: PloS One
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