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https://www.readbyqxmd.com/read/29053888/epidemiological-patterns-of-tick-borne-encephalitis-in-lithuania-and-clinical-features-in-adults-in-the-light-of-the-high-incidence-in-recent-years-a-retrospective-study
#1
Daiva Radzišauskienė, Kęstutis Žagminas, Loreta Ašoklienė, Arminas Jasionis, Rūta Mameniškienė, Arvydas Ambrozaitis, Ligita Jančorienė, Dalius Jatužis, Iveta Petraitytė, Evelina Mockienė
BACKGROUND: Lithuania is one of the countries with the highest incidence of TBE in Europe. The aim of this study was to describe the epidemiological patterns of TBE in Lithuania, and characterize clinical features in adults in the light of the high incidence in recent years. METHODS: Surveillance data available on the website of the Center for Communicable Diseases and AIDS of Lithuania were used to describe the epidemiological patterns of TBE. The retrospective study included 712 patients hospitalized in the Center for Infectious Diseases and the Center for Neurology of Vilnius University in the years 2005-2014...
October 20, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#2
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
September 26, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053830/friedreich-s-ataxia-clinical-features-pathogenesis-and-management
#3
A Cook, P Giunti
Introduction: Friedreich's ataxia is the most common inherited ataxia. Sources of data: Literature search using PubMed with keywords Friedreich's ataxia together with published papers known to the authors. Areas of agreement: The last decade has seen important advances in our understanding of the pathogenesis of disease. In particular, the genetic and epigenetic mechanisms underlying the disease now offer promising novel therapeutic targets...
October 19, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/29053796/exome-sequencing-and-network-analysis-identifies-shared-mechanisms-underlying-spinocerebellar-ataxia
#4
Esther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, Michiel R Fokkens, Juha M Karjalainen, Cleo J L M Smeets, Jelkje J de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana B Bampi, Cleo van Diemen, Ewout Brunt, Elly Ippel, Berry Kremer, Monique Vlak, Noam Adir, Cisca Wijmenga, Bart P C van de Warrenburg, Lude Franke, Richard J Sinke, Dineke S Verbeek
The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. Despite the identification of numerous disease genes, a substantial number of cases still remain without a genetic diagnosis. Here, we report five novel spinocerebellar ataxia genes, FAT2, PLD3, KIF26B, EP300, and FAT1, identified through a combination of exome sequencing in genetically undiagnosed families and targeted resequencing of exome candidates in a cohort of singletons...
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053777/movement-disorders-with-neuronal-antibodies-syndromic-approach-genetic-parallels-and-pathophysiology
#5
Bettina Balint, Angela Vincent, Hans-Michael Meinck, Sarosh R Irani, Kailash P Bhatia
Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies...
September 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29052317/defective-ciliogenesis-in-inpp5e-related-joubert-syndrome
#6
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Joubert syndrome exhibits genetic heterogeneity, with mutations identified in more than 30 genes, including INPP5E, a gene encoding inositol polyphosphate 5-phosphatase E, which is important in the development and stability of the primary cilium...
October 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29050399/diagnostic-criteria-for-chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-clippers
#7
W Oliver Tobin, Yong Guo, Karl N Krecke, Joseph E Parisi, Claudia F Lucchinetti, Sean J Pittock, Jay Mandrekar, Divyanshu Dubey, Jan Debruyne, B Mark Keegan
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a central nervous system inflammatory syndrome predominantly affecting the brainstem, cerebellum, and spinal cord. Following its initial description, the salient features of CLIPPERS have been confirmed and expanded upon, but the lack of formalized diagnostic criteria has led to reports of patients with dissimilar features purported to have CLIPPERS. We evaluated clinical, radiological and pathological features of patients referred for suspected CLIPPERS and propose diagnostic criteria to discriminate CLIPPERS from non-CLIPPERS aetiologies...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050392/clinical-spectrum-and-genotype-phenotype-associations-of-kcna2-related-encephalopathies
#8
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W Klee, Brendan C Lanpher, Ralitza H Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen Gorman, Mary D King, Nicholas M Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, Jose M Serratosa, Beatriz G Giraldez, Ingo Helbig, Eric Marsh, Margaret O'Brien, Christina A Bergqvist, Adrian Binelli, Brenda Porter, Eduardo Zaeyen, Dafne D Horovitz, Markus Wolff, Dragan Marjanovic, Hande S Caglayan, Mutluay Arslan, Sergio D J Pena, Sanjay M Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R Lemke, Rikke S Møller, Holger Lerche, Guido Rubboli
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29047014/a-callosal-catastrophe-toxic-leukoencephalopathy-associated-with-thermogenic-weight-loss-supplement-use
#9
Zakraus K Mahdavi, Ram Narayan, Shraddha Mainali, Benjamin M Greenberg, Venkatesh Aiyagari, David L McDonagh
BACKGROUND: The use of weight loss drugs and dietary supplements is common, but safety profiles for these drugs are largely unknown. Reports of toxicity have been published, and the use of these agents should be considered in clinical differential diagnoses. METHODS: We report the case of a patient with toxic leukoencephalopathy and hyponatremia associated with oral consumption of a thermogenic dietary supplement and essential oils. RESULTS: A 30-year-old woman presented after 2 days of headache, blurred vision, photophobia, vomiting, and hand spasms...
October 18, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/29046994/peripheral-markers-of-autophagy-in-polyglutamine-diseases
#10
Giorgia Puorro, Angela Marsili, Francesca Sapone, Chiara Pane, Anna De Rosa, Peluso Silvio, Giuseppe De Michele, Alessandro Filla, Francesco Saccà
Polyglutamine disorders are neurodegenerative diseases that share a CAG repeat expansion in the coding region, resulting in aggregated proteins that can be only degraded through aggrephagy. We measured the expression of autophagy genes in peripheral blood mononuclear cells of 20 patients with Huntington's disease (HD), 20 with spinocerebellar ataxia type 2 (SCA2), and 20 healthy individuals. HD patients showed increased expression of MAP1LC3B (+ 43%; p = 0.048), SQSTM1 (+ 49%; p = 0.002), and WDFY3 (+ 89%; p < 0...
October 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29046887/erratum-selected-missense-mutations-impair-frataxin-processing-in-friedreich-ataxia
#11
(no author information available yet)
[This corrects the article DOI: 10.1002/acn3.433.].
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29046784/the-role-of-gene-variants-in-the-pathogenesis-of-neurodegenerative-disorders-as-revealed-by-next-generation-sequencing-studies-a-review
#12
REVIEW
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, Richard Shek-Kwan Chang, Miaoxin Li, Pak-Chung Sham, Shu-Leong Ho
The clinical diagnosis of neurodegenerative disorders based on phenotype is difficult in heterogeneous conditions with overlapping symptoms. It does not take into account the disease etiology or the highly variable clinical course even amongst patients diagnosed with the same disorder. The advent of next generation sequencing (NGS) has allowed for a system-wide, unbiased approach to identify all gene variants in the genome simultaneously. With the plethora of new genes being identified, genetic rather than phenotype-based classification of Mendelian diseases such as spinocerebellar ataxia (SCA), hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth disease (CMT) has become widely accepted...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29046206/-clinical-and-genetic-analyses-of-a-family-with-atypical-nonketotic-hyperglycinemia-caused-by-compound-heterozygous-mutations-in-the-gldc-gene
#13
Tie-Jia Jiang, Jing-Jing Jiang, Jia-Lu Xu, Jing Zhen, Pei-Fang Jiang, Feng Gao
Nonketotic hyperglycinemia (NKH) is an autosomal recessive hereditary disease caused by a defect in the glycine cleavage system and is classified into typical and atypical NKH. Atypical NKH has complex manifestations and is difficult to diagnose in clinical practice. This article reports a family of NKH. The parents had normal phenotypes, and the older brother and the younger sister developed this disease in the neonatal period. The older brother manifested as intractable epilepsy, severe spastic diplegia, intellectual disability, an increased level of glycine in blood and cerebrospinal fluid, an increased glycine/creatinine ratio in urine, and an increased ratio of glycine concentration in cerebrospinal fluid and blood...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29044877/sustained-fxn-expression-in-dorsal-root-ganglia-from-a-nonreplicative-genomic-hsv-1-vector
#14
Maria Ventosa, Zetang Wu, Filip Lim
BACKGROUND: Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disease caused by mutations in the frataxin gene (FXN), which lead to reduced levels of the essential mitochondrial protein frataxin. Currently there is no effective cure. METHODS: With the aim of developing a gene therapy for FA neuropathology, here we describe the construction and preliminary characterization of a high capacity nonreplicative genomic herpes simplex virus type 1 vector (H24B-FXNlac vector) carrying a reduced version of the human FXN genomic locus, comprising the 5 kb promoter and the FXN cDNA with the inclusion of intron 1...
October 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29044765/a-novel-inborn-error-of-the-coenzyme-q10-biosynthesis-pathway-cerebellar-ataxia-and-static-encephalomyopathy-due-to-coq5-c-methyltransferase-deficiency
#15
May Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode-Shakked, Amir Dori, Sravan Kakani, Settara C Chandrasekharappa, Carlos Ferreira, Natalia Shelestovich, Dina Marek-Yagel, Hadass Pri-Chen, Ilan Blatt, John E Niederhuber, Langping He, Camilo Toro, Robert W Taylor, John Deeken, Tal Yardeni, Douglas C Wallace, William A Gahl, Yair Anikster
Primary coenzyme Q10 (CoQ10 ; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a dozen genes are involved in the biosynthesis of CoQ10 , and mutations in several of these are associated with human disease. However, mutations in COQ5 (MIM# 616359), catalyzing the only C-methylation in the CoQ10 synthetic pathway, have not been implicated in human disease. Here, we report three female siblings of Iraqi-Jewish descent, who had varying degrees of cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures and cognitive disability...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29044418/friedreich-ataxia-developmental-failure-of-the-dorsal-root-entry-zone
#16
Arnulf H Koeppen, Alyssa B Becker, Jiang Qian, Benjamin B Gelman, Joseph E Mazurkiewicz
Dorsal root ganglia, dorsal roots (DR), and dorsal root entry zones (DREZ) are vulnerable to frataxin deficiency in Friedreich ataxia (FA). A previously unrecognized abnormality is the intrusion of astroglial tissue into DR. Segments of formalin-fixed upper lumbar spinal cord of 13 homozygous and 2 compound heterozygous FA patients were sectioned longitudinally to represent DREZ and stained for glial fibrillary acidic protein (GFAP), S100, vimentin, the central nervous system (CNS)-specific myelin protein proteolipid protein, the peripheral nervous system (PNS) myelin proteins PMP-22 and P0, and the Schwann cell proteins laminin, alpha-dystroglycan, and periaxin...
November 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29043089/dermal-and-neural-toxicity-caused-by-acrylamide-exposure-in-two-korean-grouting-workers-a-case-report
#17
Heeyun Kim, Sang Gil Lee, Jeongbae Rhie
BACKGROUND: Peripheral neuritis caused by acrylamide is well-known, and many Korean grouting workers are frequently exposed to acrylamide in grouting agents that are injected into cracked concrete. We recently encountered two cases of dermal and neural toxicity in Korean grouting workers with exposure to grouting agents that contained a high concentration of acrylamide. CASE PRESENTATION: The first case involved a 44-year-old man with 8 years of waterproofing experience...
2017: Annals of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/29042482/resveratrol-stimulates-the-metabolic-reprogramming-of-human-cd4-t-cells-to-enhance-effector-function
#18
Marco Craveiro, Gaspard Cretenet, Cédric Mongellaz, Maria I Matias, Olivier Caron, Maria C Pedroso de Lima, Valérie S Zimmermann, Eric Solary, Valérie Dardalhon, Vjekoslav Dulić, Naomi Taylor
The polyphenol resveratrol activates the deacetylase Sirt1, resulting in various antioxidant, chemoprotectant, neuroprotective, cardioprotective, and anti-inflammatory properties. We found that at high concentrations of resveratrol, human CD4(+) T cells showed defective antigen receptor signaling and arrest at the G1 stage of the cell cycle, whereas at low concentrations, cells were readily activated and exhibited enhanced Sirt1 deacetylase activity. Nevertheless, low-dose resveratrol rapidly stimulated genotoxic stress in the T cells, which resulted in engagement of a DNA damage response pathway that depended on the kinase ATR [ataxia telangiectasia-mutated (ATM) and Rad3-related], but not ATM, and subsequently in premitotic cell cycle arrest...
October 17, 2017: Science Signaling
https://www.readbyqxmd.com/read/29038243/an-%C3%AE-ii-spectrin-based-cytoskeleton-protects-large-diameter-myelinated-axons-from-degeneration
#19
Claire Yu-Mei Huang, Chuansheng Zhang, Daniel R Zollinger, Christophe Leterrier, Matthew N Rasband
Axons must withstand mechanical forces including tension, torsion, and compression. Spectrins and actin form a periodic cytoskeleton proposed to protect axons against these forces. However, since spectrins also participate in assembly of axon initial segments (AIS) and nodes of Ranvier, it is difficult to uncouple their roles in maintaining axon integrity from their functions at AIS and nodes. To overcome this problem and to determine the importance of spectrin cytoskeletons for axon integrity, we generated mice with αII spectrin-deficient peripheral sensory neurons...
October 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29037336/neuropsychiatry-towards-a-philosophy-of-praxis
#20
Jesús Ramirez-Bermudez, Rodrigo Perez-Esparza, Luis Carlos Aguilar-Venegas, Perminder Sachdev
Neuropsychiatry is a specialized clinical, academic and scientific discipline with its field located in the borderland territory between neurology and psychiatry. In this article, we approach the theoretical definition of neuropsychiatry, and in order to address the practical aspects of the discipline, we describe the profile of a neuropsychiatric liaison service in the setting of a large hospital for neurological diseases in a middle-income country. An audit of consecutive in-patients requiring neuropsychiatric assessment at the National Institute of Neurology and Neurosurgery of Mexico is reported, comprising a total of 1212 patients...
October 2017: Revista Colombiana de Psiquiatría
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