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https://www.readbyqxmd.com/read/27815806/first-successful-trial-of-preimplantation-genetic-diagnosis-for-pantothenate-kinase-associated-neurodegeneration
#1
Objoon Trachoo, Chonthicha Satirapod, Bhakbhoom Panthan, Matchuporn Sukprasert, Angkana Charoenyingwattana, Wasun Chantratita, Wicharn Choktanasiri, Suradej Hongeng
PURPOSE: We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation. METHODS: ICSI-IVF was performed on a Thai couple, 34-year-old female and 33-year-old male, with a family history of PKAN in their first child. Following fertilization, each of the embryos were biopsied in the cleavage stage and subsequently processed for whole-genome amplification...
November 4, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27516453/coenzyme-a-corrects-pathological-defects-in-human-neurons-of-pank2-associated-neurodegeneration
#2
Daniel I Orellana, Paolo Santambrogio, Alicia Rubio, Latefa Yekhlef, Cinzia Cancellieri, Sabrina Dusi, Serena G Giannelli, Paola Venco, Pietro G Mazzara, Anna Cozzi, Maurizio Ferrari, Barbara Garavaglia, Stefano Taverna, Valeria Tiranti, Vania Broccoli, Sonia Levi
Pantothenate kinase-associated neurodegeneration (PKAN) is an early onset and severely disabling neurodegenerative disease for which no therapy is available. PKAN is caused by mutations in PANK2, which encodes for the mitochondrial enzyme pantothenate kinase 2. Its function is to catalyze the first limiting step of Coenzyme A (CoA) biosynthesis. We generated induced pluripotent stem cells from PKAN patients and showed that their derived neurons exhibited premature death, increased ROS production, mitochondrial dysfunctions-including impairment of mitochondrial iron-dependent biosynthesis-and major membrane excitability defects...
October 4, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27487380/a-diagnostic-approach-for-neurodegeneration-with-brain-iron-accumulation-clinical-features-genetics-and-brain-imaging
#3
Rubens Paulo Araújo Salomão, José Luiz Pedroso, Maria Thereza Drumond Gama, Lívia Almeida Dutra, Ricardo Horta Maciel, Clécio Godeiro-Junior, Hsin Fen Chien, Hélio A G Teive, Francisco Cardoso, Orlando G P Barsottini
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome...
July 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27476418/movement-disorders-in-mitochondrial-diseases
#4
C Tranchant, M Anheim
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to nuclear POLG1 gene mutations, and also in ARCA2, Friedreich's ataxia, SPG7, SCA28 and autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) due to mutations in nuclear genes involved in mitochondrial morphology or function...
August 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27446545/novel-homozygous-pank2-mutation-identified-in-a-consanguineous-chinese-pedigree-with-pantothenate-kinase-associated-neurodegeneration
#5
Yan-Fang Li, Hong-Fu Li, Yan-Bin Zhang, Ji-Min Wu
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive neurodegenerative disorder resulting from pantothenate kinase 2 (PANK2) gene mutations. It is clinically characterized by early onset of extrapyramidal symptoms, with or without pigmentary retinopathy, optic atrophy and acanthocytosis. The specific radiographic appearance of PKAN is the eye-of-the-tiger sign. However, there are few studies regarding PKAN patients of Chinese Han ancestry. In the present study, a Chinese 20-year-old female with an 8-year history of unsteady walking and involuntary movements is described...
August 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27395430/isolation-and-molecular-characterization-of-a-stationary-phase-promoter-useful-for-gene-expression-in-gordonia
#6
Pooja Singh, Sahil Chachan, Divya Singhi, Preeti Srivastava
Gordonia are gram-positive bacteria belonging to Actinomycetes family with a wide variety of industrial and environmental applications. The genetic toolbox, however, is limited for manipulation of these organisms. In the present study, a new promoter has been isolated from Gordonia sp. IITR 100 and characterized in detail. The promoter was found to be functional in Escherichia coli. The minimal promoter was identified in a 166bp fragment by deletion mapping. The putative -35 and -10 hexamer showed four and five nucleotide matches respectively with the E...
October 10, 2016: Gene
https://www.readbyqxmd.com/read/27185474/a-novel-gene-mutation-in-pank2-in-a-patient-with-severe-jaw-opening-dystonia
#7
Zuhal Yapici, Nihan Hande Akcakaya, Pinar Tekturk, Sibel Aylin Ugur Iseri, Ugur Ozbek
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative condition. Major clinical features include progressive dystonia, pigmentary retinopathy, spasticity, and cognitive decline. The typical MRI sign of the disease, known as "eye-of-the-tiger", is what makes differential diagnosis possible. We here describe a 16-year-old male patient with PKAN presenting with severe and sustained jaw-opening dystonia which may be due to heterogeneous etiologies showing poor response to treatment...
September 2016: Brain & Development
https://www.readbyqxmd.com/read/26983149/-%C3%A2-a-most-strange-instance-of-illness-in-several-siblings%C3%A2-first-description-of-a-rare-neurological-disease-in-1830
#8
Magne Nylenna, Noralv Breivik, Arvid Heiberg, Øivind Larsen
Was district medical officer Jensen the first doctor to describe patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN) in Volda in 1830? A case series of four siblings with the same disease written by district medical officer Peter Jensen (1799-1832) in Aalesund in 1830, was published in the Norwegian medical journal Eyr in 1832. The children, who were healthy almost up to school age, developed dystonic involuntary movements and deformities in all extremities, lost their ability to speak and were emaciated before they died at around the age of nine years...
March 15, 2016: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://www.readbyqxmd.com/read/26828840/optic-atrophy-in-a-patient-with-atypical-pantothenate-kinase-associated-neurodegeneration
#9
Jinu Han, Do Wook Kim, Chul-Ho Lee, Sueng-Han Han
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegeneration with brain iron accumulation and characterized by extrapyramidal signs, vision loss, and intellectual decline. PKAN is caused by mutations in the PANK2 gene, which codes for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the coenzyme A biosynthetic pathway. Visual failure in this disorder is typically due to pigmentary retinopathy. Yet our patient, a 13-year-old girl with PKAN, developed bilateral optic atrophy and the appearance of the retina and electroretinography were normal...
June 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/26828213/clinical-heterogeneity-of-atypical-pantothenate-kinase-associated-neurodegeneration-in-koreans
#10
Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho, Mee Young Park, Yun Joong Kim, Young H Sohn, Beom Seok Jeon, Myung Sik Lee
OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature...
January 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/26740874/first-report-of-co-morbidity-of-pantothenate-kinase-associated-neurodegeneration-and-three-types-of-chronic-hemolytic-anemias
#11
Iman M Talaat, Naglaa M Kamal, Ebtessam H K El Melegy, Hamed A Alghamdi, Mohammed F Aljabri, Enas A A Abdallah, Mohammed Sarar, Mohamed A Alshahrani
BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN), sickle cell anemia, and thalassemia are autosomal recessive disorders that can cause iron deposition in tissues during childhood. PKAN is characterized by accumulation of iron in the basal ganglia causing progressive extrapyramidal manifestations. Thalassemia and sickle cell disease can cause iron overload and deposition in tissues, including central nervous system. PRESENTATION OF CASE: we herein report the first report of comorbidity of PKAN, β-thalassemia-major, sickle cell and glucose-6-phosphate dehydrogenase deficiency (G6PD) anemias in a 9 years old Saudi female patient who presented with gait disturbance, speech difficulty, and progressive movement disorders of the neck, upper and lower limbs...
February 2016: Annals of Medicine and Surgery
https://www.readbyqxmd.com/read/26590848/enhanced-h2-production-and-redirected-metabolic-flux-via-overexpression-of-fhla-and-pncb-in-klebsiella-hq-3-strain
#12
Muhammad Jawed, Jian Pi, Li Xu, Houjin Zhang, Abdul Hakeem, Yunjun Yan
Genetic modifications are considered as one of the most important technologies for improving fermentative hydrogen yield. Herein, we overexpress fhlA and pncB genes from Klebsiella HQ-3 independently to enhance hydrogen molar yield. HQ-3-fhlA/pncB strain is developed by manipulation of pET28-Pkan/fhlA Kan(r) and pBBR1-MCS5/pncB Gm(r) as expression vectors to examine the synchronous effects of fhlA and pncB. Optimization of anaerobic batch fermentations is achieved and the maximum yield of biohydrogen (1.42 mol H2/mol of glucose) is produced in the range of pH 6...
March 2016: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/26547561/pallidal-neuronal-apolipoprotein-e-in-pantothenate-kinase-associated-neurodegeneration-recapitulates-ischemic-injury-to-the-globus-pallidus
#13
Randall L Woltjer, Lindsay C Reese, Brian E Richardson, Huong Tran, Sarah Green, Thao Pham, Megan Chalupsky, Isabella Gabriel, Tyler Light, Lynn Sanford, Suh Young Jeong, Jeffrey Hamada, Leila K Schwanemann, Caleb Rogers, Allison Gregory, Penelope Hogarth, Susan J Hayflick
Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive movement disorder that is due to mutations in PANK2. Pathologically, it is a member of a class of diseases known as neurodegeneration with brain iron accumulation (NBIA) and features increased tissue iron and ubiquitinated proteinaceous aggregates in the globus pallidus. We have previously determined that these aggregates represent condensed residue derived from degenerated pallidal neurons. However, the protein content, other than ubiquitin, of these aggregates remains unknown...
December 2015: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26476142/knock-down-of-pantothenate-kinase-2-severely-affects-the-development-of-the-nervous-and-vascular-system-in-zebrafish-providing-new-insights-into-pkan-disease
#14
Daniela Zizioli, Natascia Tiso, Adele Guglielmi, Claudia Saraceno, Giorgia Busolin, Roberta Giuliani, Deepak Khatri, Eugenio Monti, Giuseppe Borsani, Francesco Argenton, Dario Finazzi
Pantothenate Kinase Associated Neurodegeneration (PKAN) is an autosomal recessive disorder with mutations in the pantothenate kinase 2 gene (PANK2), encoding an essential enzyme for Coenzyme A (CoA) biosynthesis. The molecular connection between defects in this enzyme and the neurodegenerative phenotype observed in PKAN patients is still poorly understood. We exploited the zebrafish model to study the role played by the pank2 gene during embryonic development and get new insight into PKAN pathogenesis. The zebrafish orthologue of hPANK2 lies on chromosome 13, is a maternal gene expressed in all development stages and, in adult animals, is highly abundant in CNS, dorsal aorta and caudal vein...
January 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/26223911/deep-brain-stimulation-as-treatment-for-dystonic-storm-in-pantothenate-kinase-associated-neurodegeneration-syndrome-case-report-of-a-patient-with-homozygous-c-628-2-t%C3%A2-%C3%A2-g-mutation-of-the-pank2-gene
#15
Bahattin Tanrıkulu, Ali Özen, Dilek Ince Günal, Dilşad Türkdoğan, Fatih Bayraklı, Yaşar Bayri, Adnan Dağçınar, Aşkın Şeker
Pantothenate kinase-associated neurodegeneration (PKAN) syndrome is an autosomal-recessive neurodegenerative disease that causes progressive generalized dystonia. Currently, the disorder remains pharmacologically intractable. Herein we report the first case in which deep brain stimulation helped to relieve dystonic storm in a patient with PKAN syndrome who had homozygous c.628 2 T > G mutation of the PANK2 gene. A 10-year-old boy with PKAN disease presented with dystonic storm and was admitted to the emergency department...
September 2015: Acta Neurochirurgica
https://www.readbyqxmd.com/read/26052948/induction-of-neuron-specific-degradation-of-coenzyme-a-models-pantothenate-kinase-associated-neurodegeneration-by-reducing-motor-coordination-in-mice
#16
Stephanie A Shumar, Paolo Fagone, Adolfo Alfonso-Pecchio, John T Gray, Jerold E Rehg, Suzanne Jackowski, Roberta Leonardi
BACKGROUND: Pantothenate kinase-associated neurodegeneration, PKAN, is an inherited disorder characterized by progressive impairment in motor coordination and caused by mutations in PANK2, a human gene that encodes one of four pantothenate kinase (PanK) isoforms. PanK initiates the synthesis of coenzyme A (CoA), an essential cofactor that plays a key role in energy metabolism and lipid synthesis. Most of the mutations in PANK2 reduce or abolish the activity of the enzyme. This evidence has led to the hypothesis that lower CoA might be the underlying cause of the neurodegeneration in PKAN patients; however, no mouse model of the disease is currently available to investigate the connection between neuronal CoA levels and neurodegeneration...
2015: PloS One
https://www.readbyqxmd.com/read/25933379/abnormal-red-cell-structure-and-function-in-neuroacanthocytosis
#17
Judith C A Cluitmans, Carlo Tomelleri, Zuhal Yapici, Sip Dinkla, Petra Bovee-Geurts, Venkatachalam Chokkalingam, Lucia De Franceschi, Roland Brock, Giel J G C M Bosman
BACKGROUND: Panthothenate kinase-associated neurodegeneration (PKAN) belongs to a group of hereditary neurodegenerative disorders known as neuroacanthocytosis (NA). This genetically heterogeneous group of diseases is characterized by degeneration of neurons in the basal ganglia and by the presence of deformed red blood cells with thorny protrusions, acanthocytes, in the circulation. OBJECTIVE: The goal of our study is to elucidate the molecular mechanisms underlying this aberrant red cell morphology and the corresponding functional consequences...
2015: PloS One
https://www.readbyqxmd.com/read/25915509/acanthocytosis-and-the-c-680-a-g-mutation-in-the-pank2-gene-a-study-enrolling-a-cohort-of-pkan-patients-from-the-dominican-republic
#18
Jasmin Schiessl-Weyer, Pedro Roa, Franco Laccone, Britta Kluge, Alexander Tichy, Euripedes De Almeida Ribeiro, Rainer Prohaska, Peter Stoeter, Claudia Siegl, Ulrich Salzer
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only pantothenate kinase isoform in humans that is localized to mitochondria. Acanthocytosis, the occurrence of spiculated erythrocytes, is observed in about 10% of the PKAN patients. Therefore PKAN is also classified together with other rare neurodegenerative diseases like Chorea Acanthocytosis (ChAc) and McLeod syndrome (MLS) into the Neuroacanthocytosis (NA) syndromes...
2015: PloS One
https://www.readbyqxmd.com/read/25859633/deep-brain-stimulation-in-the-globus-pallidus-compensates-response-inhibition-deficits-evidence-from-pantothenate-kinase-associated-neurodegeneration
#19
Moritz Mückschel, Martin Smitka, Andreas Hermann, Maja von der Hagen, Christian Beste
Fronto-striatal loops are important for many cognitive control processes, like response inhibition, and it has been suggested that the globus pallidus is of particular importance for these processes. In the current study, we investigate the effect of deep brain stimulation in the GP on response inhibition processes by means of neurophysiological (EEG) methods. We perform a case-control study in neuroaxonal dystrophy pantothenate kinase-associated neurodegeneration (PKAN) using single-case statistics. We control the signal-to-noise ratio of the EEG data...
May 2016: Brain Structure & Function
https://www.readbyqxmd.com/read/25819806/changes-of-cerebral-white-matter-in-patients-suffering-from-pantothenate-kinase-associated-neurodegeneration-pkan-a%C3%A2-diffusion-tensor-imaging-dti-study
#20
P Stoeter, P Roa-Sanchez, H Speckter, E Perez-Then, B Foerster, C Vilchez, J Oviedo, R Rodriguez-Raecke
BACKGROUND: To look for microstructural white matter alterations in patients with dystonia due to Pantothenate Kinase-Associated Neurodegeneration. MATERIAL AND METHODS: We examined 21 genetically confirmed patients and an age-matched group of 21 healthy controls by diffusion tensor imaging. Evaluation of data was performed by tract-based spatial statistics analysis and a voxel-wise comparison of calculated maps of fractional anisotropy. Findings were compared between groups and correlated to the dystonia score of the Burke-Fahn-Marsden Scale (p ≤ 0...
June 2015: Parkinsonism & related Disorders
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