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Multi system atrophy

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https://www.readbyqxmd.com/read/29776876/-efficacy-of-botulinum-toxin-a-injections-in-the-urethral-sphincter-in-patients-with-difficulties-to-perform-self-intermittent-catherization
#1
T Honore, F Le Breton, N Turmel, B Bignani, C Chesnel, A Charlanes, G Amarenco
PURPOSE: To evaluate safety and efficacy of botulinum toxin A injections in the urethral striated sphincter in patients with difficulties to perform self-intermittent catherization. METHODS: In this prospective study, 12 patients suffering from upper motor neuron diseases (8 multiple sclerosis, 2 myelitis, 1 brain injury, 1 multi system atrophy) and with difficulties to perform self-intermittent catherization, defined by a ICDQ score>1 (Intermittent Catheterization Difficulty Questionnaire) have had injections of 100U BOTOX® under EMG guidance in the urethral striated sphincter, for a total of 15 injections...
May 15, 2018: Progrès en Urologie
https://www.readbyqxmd.com/read/29727687/variants-in-exosc9-disrupt-the-rna-exosome-and-result-in-cerebellar-atrophy-with-spinal-motor-neuronopathy
#2
David T Burns, Sandra Donkervoort, Juliane S Müller, Ellen Knierim, Diana Bharucha-Goebel, Eissa Ali Faqeih, Stephanie K Bell, Abdullah Y AlFaifi, Dorota Monies, Francisca Millan, Kyle Retterer, Sarah Dyack, Sara MacKay, Susanne Morales-Gonzalez, Michele Giunta, Benjamin Munro, Gavin Hudson, Mena Scavina, Laura Baker, Tara C Massini, Monkol Lek, Ying Hu, Daniel Ezzo, Fowzan S AlKuraya, Peter B Kang, Helen Griffin, A Reghan Foley, Markus Schuelke, Rita Horvath, Carsten G Bönnemann
The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination. Here, we report on four unrelated affected individuals with recessive variants in EXOSC9 and the effect of the variants on the function of the RNA exosome in vitro in affected individuals' fibroblasts and skeletal muscle and in vivo in zebrafish...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29603737/clinical-presentation-and-magnetic-resonance-imaging-findings-in-11-dogs-with-eosinophilic-meningoencephalitis-of-unknown-aetiology
#3
T J A Cardy, I Cornelis
OBJECTIVES: To describe the clinical presentation, MRI findings and outcome in dogs with eosinophilic meningoencephalitis of unknown origin. MATERIALS AND METHODS: Dogs were included in this retrospective study if they had complete medical records, complete neurological examination, MR imaging, cerebellomedullary cerebrospinal fluid sample consistent with eosinophilic pleocytosis and negative infectious disease testing. RESULTS: Eleven dogs were included with a median age of 22·0 months (range 7·6 to 92·0 months)...
March 30, 2018: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/29480226/lrrk2-p-ile1371val-mutation-in-a-case-with-neuropathologically-confirmed-multi-system-atrophy
#4
Kelsey Lee, Khanh-Dung Nguyen, Chao Sun, Mei Liu, Faria Zafar, Jimmy Saetern, Adrian Flierl, James W Tetrud, J William Langston, Dennis Dickson, Birgitt Schüle
BACKGROUND: Mutations in the leucine rich repeat kinase 2 (LRRK2) gene are among the most common genetic causes of Lewy body Parkinson's disease (PD). However, LRRK2 mutations can also lead to a variety of pathological phenotypes other than typical PD, including relatively pure nigrostriatal cell loss without alpha-synuclein-positive Lewy bodies or Lewy neurites, progressive supranuclear palsy (PSP), and multiple system atrophy (MSA). The mechanisms behind this remarkable pleomorphic pathology are currently unclear...
2018: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#5
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29290337/kiaa1109-variants-are-associated-with-a-severe-disorder-of-brain-development-and-arthrogryposis
#6
Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M van Hasselt, Michaël Wiederkehr, Caroline F Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S Alkuraya, Alexandre Reymond
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29246926/combined-active-humoral-and-cellular-immunization-approaches-for-the-treatment-of-synucleinopathies
#7
Edward Rockenstein, Gary Ostroff, Fusun Dikengil, Florentina Rus, Michael Mante, Jazmin Florio, Anthony Adame, Ivy Trinh, Changyoun Kim, Cassia Overk, Eliezer Masliah, Robert A Rissman
Dementia with Lewy bodies, Parkinson's disease, and Multiple System Atrophy are age-related neurodegenerative disorders characterized by progressive accumulation of α-synuclein (α-syn) and jointly termed synucleinopathies. Currently, no disease-modifying treatments are available for these disorders. Previous preclinical studies demonstrate that active and passive immunizations targeting α-syn partially ameliorate behavioral deficits and α-syn accumulation; however, it is unknown whether combining humoral and cellular immunization might act synergistically to reduce inflammation and improve microglial-mediated α-syn clearance...
January 24, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29239282/generation-of-human-induced-pluripotent-stem-cells-from-wolfram-syndrome-type-2-patients-bearing-the-c-103-1g-a-cisd2-mutation-for-disease-modeling
#8
Alberto La Spada, Aikaterini Ntai, Stefano Genovese, Maurizio Rondinelli, Pasquale De Blasio, Ida Biunno
Wolfram syndrome (WFS) is a rare autosomal premature aging syndrome that shows signs of diabetes mellitus, optic atrophy, and deafness in addition to central nervous system and endocrine complications. The frequent form of WFS type 1 (WFS1) harbors causative mutations in the WFS1 gene, whereas the rare form or WFS type 2 (WFS2) involves CISD2. Mutations in these two genes are recognized by a subset of variable clinical symptoms and a set of overlapping features. In this study, we report on the generation of stable human-induced pluripotent stem cells (hiPSCs) derived from primary fibroblasts of a previously reported Italian family with CISD2 mutation (c...
February 15, 2018: Stem Cells and Development
https://www.readbyqxmd.com/read/29220503/downregulation-of-survivin-contributes-to-cell-cycle-arrest-during-postnatal-cardiac-development-in-a-severe-spinal-muscular-atrophy-mouse-model
#9
Lei Sheng, Bo Wan, Pengchao Feng, Junjie Sun, Frank Rigo, C Frank Bennett, Martin Akerman, Adrian R Krainer, Yimin Hua
Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality, characterized by progressive degeneration of spinal-cord motor neurons, leading to atrophy of skeletal muscles. However, accumulating evidence indicates that it is a multi-system disorder, particularly in its severe forms. Several studies delineated structural and functional cardiac abnormalities in SMA patients and mouse models, yet the abnormalities have been primarily attributed to autonomic dysfunction. Here, we show in a severe mouse model that its cardiomyocytes undergo G0/G1 cell-cycle arrest and enhanced apoptosis during postnatal development...
February 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29172006/two-cases-of-spinal-muscular-atrophy-type-ii-with-eosinophilic-oesophagitis
#10
Heidi R Fuller, Hannah K Shorrock, Thomas H Gillingwater, Anna Pigott, Victoria Smith, Richa Kulshrestha, Caroline S Sewry, Tracey A Willis
Although primarily characterised by loss of motor neurons from the anterior horn of spinal cord and muscle atrophy, spinal muscular atrophy (SMA) is now recognised as a multi-systemic disorder. Here, we report two SMA Type II patients with eosinophilic oesophagitis (EoE), a rare, chronic immune/antigen-mediated condition. One patient presented with dysphagia and poor weight gain, and the second patient had symptoms of gastro-oesophageal reflux (GOR) and poor weight gain. In both patients, macroscopic observations during gastroscopy indicated typical signs of EoE, which were verified during histological examination of oesophageal biopsies...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29166909/multiscale-positive-feedbacks-contribute-to-unidirectional-gastric-disease-progression-induced-by-helicobacter-pylori-infection
#11
Richard Ballweg, Frederick Schozer, Kelsey Elliott, Alexander Kuhn, Logan Spotts, Eitaro Aihara, Tongli Zhang
BACKGROUND: Helicobacter Pylori (HP) is the most common risk factor for gastric cancer. Nearly half the world's population is infected with HP, but only a small percentage of those develop significant pathology. The bacteria itself does not directly cause cancer; rather it promotes an environment that is conducive to tumor formation. Upon infection, HP induces transcriptional changes in the host, leading to enhanced proliferation and host immune response. In addition, HP causes direct damage to gastric epithelial cells...
November 22, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/29121642/limbic-system-damage-in-ms-mri-assessment-and-correlations-with-clinical-testing
#12
Jie Wen, Dmitriy A Yablonskiy, Amber Salter, Anne H Cross
Volume loss in some limbic region structures has been observed in multiple sclerosis (MS) patients. However, in vivo evaluation of existing tissue cellular microstructure integrity has received less attention. The goal of studies reported here was to quantitatively assess loss of limbic system volumes and tissue integrity, and to evaluate associations of these measures with cognitive and physical dysfunction in MS patients. Thirty-one healthy controls (HC) and 80 MS patients, including 32 relapsing remitting (RRMS), 32 secondary progressive (SPMS) and 16 primary progressive (PPMS), participated in this study...
2017: PloS One
https://www.readbyqxmd.com/read/29111092/quantitative-neuroimaging-in-mucopolysaccharidoses-clinical-trials
#13
REVIEW
Igor Nestrasil, Leonardo Vedolin
The mucopolysaccharidosis (MPS) disorders are rare lysosomal storage disorders caused by mutations in lysosomal enzymes involved in glycosaminoglycan (GAG) degradation. The resulting intracellular accumulation of GAGs leads to widespread tissue and organ dysfunction. In addition to somatic signs and symptoms, patients with MPS can present with neurological manifestations such as cognitive decline, behavioral problems (e.g. hyperactivity and aggressiveness), sleep disturbances, and/or epilepsy. These are associated with significant abnormalities of the central nervous system (CNS), including white and gray matter lesions, brain atrophy, ventriculomegaly, and spinal cord compression...
December 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28990762/multichanneled-nerve-guidance-conduit-with-spatial-gradients-of-neurotrophic-factors-and-oriented-nanotopography-for-repairing-the-peripheral-nervous-system
#14
Yo-Cheng Chang, Ming-Hong Chen, Shih-Yung Liao, Hsi-Chin Wu, Chen-Hsiang Kuan, Jui-Sheng Sun, Tzu-Wei Wang
Peripheral nerve injuries, causing sensory and motor impairment, affect a great number of patients annually. It is therefore important to incorporate different strategies to promote nerve healing. Among the treatment options, however, the efficacy of nerve conduits is often compromised by their lack of living cells, insufficient growth factors, and absence of the extracellular matrix (ECM)-like structure. To improve the functional recovery, we aimed to develop a natural biodegradable multichanneled scaffold characterized with aligned electrospun nanofibers and neurotrophic gradient (MC/AN/NG) to guide axon outgrowth...
October 17, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28900761/a-novel-multi-objective-physiological-control-system-for-rotary-left-ventricular-assist-devices
#15
Anastasios Petrou, Marcial Monn, Mirko Meboldt, Marianne Schmid Daners
Various control and monitoring algorithms have been proposed to improve the left-ventricular assist device (LVAD) therapy by reducing the still-occurring adverse events. We developed a novel multi-objective physiological control system that relies on the pump inlet pressure (PIP). Signal-processing algorithms have been implemented to extract the required features from the PIP. These features then serve for meeting various objectives: pump flow adaptation to the perfusion requirements, aortic valve opening for a predefined time, augmentation of the aortic pulse pressure, and monitoring of the LV pre- and afterload conditions as well as the cardiac rhythm...
December 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28899515/the-water-extract-of-liuwei-dihuang-possesses-multi-protective-properties-on-neurons-and-muscle-tissue-against-deficiency-of-survival-motor-neuron-protein
#16
Yu-Ting Tseng, Yuh-Jyh Jong, Wei-Fang Liang, Fang-Rong Chang, Yi-Ching Lo
BACKGROUND: Deficiency of survival motor neuron (SMN) protein, which is encoded by the SMN1 and SMN2 genes, induces widespread splicing defects mainly in spinal motor neurons, and leads to spinal muscular atrophy (SMA). Currently, there is no effective treatment for SMA. Liuwei dihuang (LWDH), a traditional Chinese herbal formula, possesses multiple therapeutic benefits against various diseases via modulation of the nervous, immune and endocrine systems. Previously, we demonstrated water extract of LWDH (LWDH-WE) protects dopaminergic neurons and improves motor activity in models of Parkinson's disease...
October 15, 2017: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/28867961/potential-immunotoxic-effects-of-trichloroethylene-induced-iv-allergic-reaction-in-renal-impairment
#17
Jun-Feng Yu, Yan-Yan Feng, Xiao-Feng Shen
Trichloroethylene (TCE) is known to induce allergic contact dermatitis and subsequent occupational medicamentosa-like dermatitis (OMLD) with multi-system injuries, including liver, kidney, and skin injuries. However, the mechanisms underlying immune system dysfunction that result in organ injury have not yet been clearly elucidated. In the present study, we measured the levels of secreted cytokines by effect or T cells in TCE-treated guinea pigs to better understand the contribution of allergic disorders in renal injuries...
2017: Central-European Journal of Immunology
https://www.readbyqxmd.com/read/28831921/in-silico-studies-in-drug-research-against-neurodegenerative-diseases
#18
Farahnaz Rezaei Makhouri, Jahan B Ghasemi
Neurodegenerative diseases such as Alzheimer's disease (AD), progressive neurodegenerative forms of Huntington's disease, Parkinson's disease (PD), amyotrophic lateral sclerosis, spinal cerebellar ataxias, and spinal and bulbar muscular atrophy are described by slow and selective dysfunction and degeneration of neurons and axons in the central nervous system (CNS). Computer-aided or in silico design methods have matured into powerful tools for reducing the number of ligands that should be screened in experimental assays...
August 22, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28586096/spinal-cord-multi-parametric-magnetic-resonance-imaging-for-survival-prediction-in-amyotrophic-lateral-sclerosis
#19
G Querin, M M El Mendili, T Lenglet, S Delphine, V Marchand-Pauvert, H Benali, P-F Pradat
BACKGROUND AND PURPOSE: Assessing survival is a critical issue in patients with amyotrophic lateral sclerosis (ALS). Neuroimaging seems to be promising in the assessment of disease severity and several studies also suggest a strong relationship between spinal cord (SC) atrophy described by magnetic resonance imaging (MRI) and disease progression. The aim of the study was to determine the predictive added value of multimodal SC MRI on survival. METHODS: Forty-nine ALS patients were recruited and clinical data were collected...
August 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28494813/not-only-dominant-not-only-optic-atrophy-expanding-the-clinical-spectrum-associated-with-opa1-mutations
#20
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
BACKGROUND: Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to optic atrophy. RESULTS: We report here three patients: one boy showing an early-onset mitochondrial disorder with hypotonia, ataxia and neuropathy that was severely progressive, leading to early death because of multiorgan failure; two unrelated sporadic girls manifesting a spastic ataxic syndrome associated with peripheral neuropathy and, only in one, optic atrophy...
May 12, 2017: Orphanet Journal of Rare Diseases
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