Milestones in Ataxia
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Diagnostic Clues in Multiple System Atrophy
DO I:10.4274/Tnd.82905 Case Report / Olgu Sunumu Diagnostic Clues in Multiple System Atrophy: A Case Report and Literature Review Multisistem Atrofi Tanısında İpuçları: Bir Olgu Sunumu ve Literatürün Gözden Geçirilmesi Mehmet Yücel, Oğuzhan Öz, Hakan Akgün, Semai Bek, Tayfun Kaşıkçı, İlter Uysal, Yaşar Kütükçü, Zeki Odabaşı Gülhane Military Medical Academy, Ankara, Turkey Sum mary Multiple system atrophy (MSA) is an adult-onset, sporadic, progressive neurodegenerative disease. Based on the consensus criteria, patients with MSA are clinically classified into cerebellar (MSA-C) and parkinsonian (MSA-P) subtypes. In addition to major diagnostic criteria including poor response to levodopa, and presence of pyramidal or cerebellar signs (ataxia) or autonomic failure, certain clinical features or ‘‘red flags’’ may raise the clinical suspicion for MSA. In our case report we present a 67-year-old female patient admitted to our hospital due to inability to walk, with poor response to levodopa therapy, whose neurological examination revealed severe Parkinsonism, ataxia and who fulfilled all criteria for MSA, as rarely seen in clinical practice.(Turkish Journal of Neurology 2013; 19:28-30) Key Words: Multiple system atrophy, autonomic failure, diagnostic criteria Özet Multisistem atrofi (MSA) erişkin dönemde başlayan, ilerleyici, nedeni bilinmeyen sporadik nörodejeneratif bir hastalıktır. MSA kabul görmüş tanı kriterlerine göre klinik olarak serebellar (MSA-C) ve parkinsoniyen (MSA-P) alt tiplerine ayrılmaktadır. Düşük levadopa yanıtı, piramidal, serebellar bulguların (ataksi) ya da otonomik bozukluk olması gibi majör tanı kriterlerininin yanında “red flags” olarak isimlendirilen belirgin klinik bulgular ya da uyarı işaretlerinin olması MSA tanısı için klinik şüpheyi oluşturmalıdır. Olgu sunumunda 67 yaşında yürüyememe şikayeti ile polikliniğimize müracaat eden ve levadopa tedavisine düşük yanıt gösteren ciddi parkinsonizm bulguları ile ataksi bulunan kadın hasta MSA tanı kriterlerini tam olarak karşıladığı ve klinik pratikte nadir görüldüğü için sunduk. -
Hereditary Ataxia Multigene Panel Testing
Lab Management Guidelines V1.0.2021 Hereditary Ataxia Multigene Panel Testing MOL.TS.310.A v1.0.2021 Introduction Hereditary Ataxia Multigene Panel testing is addressed by this guideline. Procedures addressed The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. Refer to the specific Health Plan's procedure code list for management requirements. Procedures addressed by this Procedure codes guideline Hereditary Ataxia Multigene Panel 81443 (including sequencing of at least 15 genes) Genomic Unity Ataxia Repeat Expansion 0216U and Sequence Analysis Genomic Unity Comprehensive Ataxia 0217U Repeat Expansion and Sequence Analysis Unlisted molecular pathology procedure 81479 What are hereditary ataxias Definition The hereditary ataxias are a group of genetic disorders. They are characterized by slowly progressive uncoordinated, unsteady movement and gait, and often poor coordination of hands, eye movements, and speech. Cerebellar atrophy is also frequently seen.1 Incidence and prevalence Prevalence estimates vary. The prevalence of autosomal dominant ataxias is approximately 1-5:100,000.1 One study in Norway estimated the prevalence of hereditary ataxia at 6.5 per 100,000 people.2 © 2020 eviCore healthcare. All Rights Reserved. 1 of 8 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Lab Management Guidelines V1.0.2021 Symptoms Although hereditary ataxias are made up of multiple different conditions, they are characterized by slowly progressive uncoordinated, unsteady movement and gait, and often poor coordination of hands, eye movements, and speech. Cerebellar atrophy is also frequently seen.1 Cause Hereditary ataxias are caused by mutations in one of numerous genes. -
Multiple System Atrophy
Multiple System Atrophy U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES Public Health Service National Institutes of Health Multiple System Atrophy What is multiple system atrophy? ultiple system atrophy (MSA) is M a progressive neurodegenerative disorder characterized by a combination of symptoms that affect both the autonomic nervous system (the part of the nervous system that controls involuntary action such as blood pressure or digestion) and move- ment. The symptoms reflect the progressive loss of function and death of different types of nerve cells in the brain and spinal cord. Symptoms of autonomic failure that may be seen in MSA include fainting spells and prob- lems with heart rate, erectile dysfunction, and bladder control. Motor impairments (loss of or limited muscle control or movement, or limited mobility) may include tremor, rigidity, and/or loss of muscle coordination as well as difficulties with speech and gait (the way a person walks). Some of these features are similar to those seen in Parkinson’s disease, and early in the disease course it often may be difficult to distinguish these disorders. MSA is a rare disease, affecting potentially 15,000 to 50,000 Americans, including men and women and all racial groups. Symptoms tend to appear in a person’s 50s and advance rapidly over the course of 5 to 10 years, with progressive loss of motor function and 1 eventual confinement to bed. People with MSA often develop pneumonia in the later stages of the disease and may suddenly die from cardiac or respiratory issues. While some of the symptoms of MSA can be treated with medications, currently there are no drugs that are able to slow disease progression and there is no cure. -
With All the Attention on the Nation's Health Care Policies These Days, It
With all the attention on the nation's health care policies these days, it seems appropriate to look back one hundred and twenty years ago, to 1890 when medical problems of local citizens were treated by health care workers plying their trade in Menomonie. With city's population approaching the 5,000 mark it was necessary to have competent medical doctors to care for everyday ills and more serious medical needs. There was a hospital providing aid for expectant mothers that was operated by a Mrs. Finley, perhaps one of a handful of midwives in town. However most hospitals established in the second half of the 19th century were primarily established to provide care, not treatment, of the inhabitants. Physicians customarily diagnosed and treated illness, delivered babies, and even performed surgery in their patients' homes or in their offices. By the late 1880s and early 1890s Menomonie had eight physicians; E. O Baker, E. H. Grannis, E. P. Wallace, F. R. Reynolds, D. H. Decker, J. V. R. Lyman, W. F. Nichols, and much to the relief of lady patients, there was a woman doctor, Miss Kate Kelsey, ready to serve. However many families at that time relied on home remedies that had been handed down by family tradition, and the newspapers and magazines of the time were filled with advertisements of such products as the Kickapoo Indian Sagwa. It was a blend of roots, herbs, and bark, concoction that "purifies the blood, and cures all diseases of the stomach, liver, and kidneys." A "Dr. Buckland" produced a "Scotch Oats Essence" that would cure, " sleeplessness, paralysis, an opium habit, drunkenness, neuralgia, sick headaches, sciatica, nervous dyspepsia, locomotor ataxia, headache, ovarian neuralgia, nervous exhaustion, epilepsy, and St. -
WITH SUPPLEMENT. SATURDAY, JULY 17, 1920. the SURGERY Of
s1~ M-1- t1t Br Med J: first published as on 17 July 1920. Downloaded from The Journal of the British Medical Associaton. INCLUDING AN EPITOME OF CURRENT MEDICAL LITERATUfhr WITH SUPPLEMENT. No. 3107.- SATURDAY, JULY 17, 1920. Price 1/- ~~ ~ ~ ~ ~ ~ ~ NEW EDITION, THOROUGHLY REviSED. By FREDERICK W. PRICE, M.D., F.R.S.(Edln.), The SURGERY of the HEART. Physieian to the Great Northern Central HospitaL http://www.bmj.com/ By Sir CHARLES A BALLANCE, K.C.M.G., THE ESSENTIALS OF HISTOLOGY: Physician to the National Hospital for Diseases C.B., M.V.O., M.S., F.IC.C.S., Deseriptive and Practieal. of the Heart, London. Conisulting Surgeon to St. Thomas's Hospital, etc. For the Use of Students. 8 vo. net. By Sir EDWARD SHARPEY SCHAFER, LL.D., DISEASES OF THE HEART. Illustrated by 48 figures. Demy 10/6 D.Sc., M.D., F.R.S., Professor of Physiology Their Diagnosis, Prognosis, and Treatment MACMILLAN & CO. and Histology in Edinburgh University. by Modern Methods. With many Illustrations, several of which are With a Chapter on the Blectro-Cardiograph. By A. C. MAGIAN, M.D., Coloured. ELEVENTH EDITION. 8vo. 14s. net. Surgeon to the Manchester Prench Hospital and to Deny 8vo, 484 pp. Veryfully Illustrated. 218. net- the Wood Clinic for Genito-Urinary Diseases. LONGMANS, GREEN & CO Lancet.-"By great care, and by the use of an MANUAL OF VENEREAL DISEASES. 39, Paternoster Rtow, London, B C. 4. amazing amounit of material, he has accomplished 2ND EDITION. With 61 Illustrations. 10s. 6fd. net. what many readers have been waiting for, giving on 26 September 2021 by guest. -
Lewy Body Diseases and Multiple System Atrophy As ␣-Synucleinopathies
Molecular Psychiatry (1998) 3, 462–465 1998 Stockton Press All rights reserved 1359–4184/98 $12.00 GUEST EDITORIAL Lewy body diseases and multiple system atrophy as ␣-synucleinopathies Parkinson’s disease and dementia with Lewy bodies synuclein are the first known genetic causes of Parkin- are among the most common neurodegenerative dis- son’s disease. They are located in the amino-terminal eases. They share the Lewy body and the Lewy neurite half of ␣-synuclein, which consists of seven imperfect as their defining neuropathological characteristics. repeats of 11 amino acids each, with the consensus Originally described in 1912 as a light-microscopic sequence KTKEGV (Figure 1). It has been suggested entity, the Lewy body was shown to be made of abnor- that ␣-synuclein may bind through these repeats to mal filaments in the 1960s. Over the past year, the bio- membranes rich in acidic phospholipids.3 chemical nature of the Lewy body filament has been This work raised the question whether ␣-synuclein revealed. is a component of Lewy bodies and Lewy neurites of A large number of different proteins has been idiopathic Parkinson’s disease and of dementia with reported to be present in Lewy bodies and Lewy neur- Lewy bodies. Using well-characterised anti-␣-synuc- ites by immunohistochemical methods. However, these lein antibodies, Spillantini et al showed strong staining findings do not permit us to distinguish between of both Lewy bodies and Lewy neurites in idiopathic intrinsic Lewy body components and normal cellular Parkinson’s disease and dementia with Lewy bodies.4 constituents that get merely trapped in the filaments They also reported the lack of staining of these patho- that make up the Lewy body. -
What You Need to Know
Multiple System Atrophy: What You Need to Know Publication Date: April 4, 2019 Authors: Daniel Claassen, MD, Allyson Mayeux, MD, and Annette Hoy, MD 2 Table of Contents Overview……………………………………………………………………………………………… 3 Differential Diagnosis…………………………………………………………………………… 9 Evaluation Methods……………………………………………………………………………… 12 Orthostatic Hypotension………………………………………………………………………. 14 Neurogenic Bladder………………………………………………………………………………. 20 MSA-P & MSA-C ..………………………………………………………………………………… 25 Dystonia………………………………………………………………………………………………… 29 Breathing Disorders………………………………………………………………………………… 34 REM Behavior Disorder…………………………………………………………………………… 39 Depression and Cognitive IMpairMent……………………………………………………. 43 Neuroprotective Diet…………………………………………………………………………….. 45 Constipation……………………………………………………………………………………………. 47 Advanced Planning: Advance Directives, Palliative Care, and Brain Donation…………………………………………………………………………………. 50 © Copyright MSA Coalition 2019. All Rights Reserved. www.multiplesystematrophy.org 3 Multiple System Atrophy Overview Multiple System Atrophy (MSA) is a rare neurodegenerative disorder that can cause different symptoms, such as impairments to balance and difficulty with movement, poor coordination, bladder dysfunction, sleep disturbances, and poor blood pressure control. The disease was first known as Shy-Drager Syndrome. At the moment, it is believed that MSA is "sporadic," meaning that there are no established genetic or environmental factors that cause the disease. A few reports have described families with MSA, but this finding is probably -
9Th Srca Symposium on the Cerebellum Taipei, May 2018
The Cerebellum (2019) 18:1–21 https://doi.org/10.1007/s12311-018-0953-2 ABSTRACTS 9TH SRCA SYMPOSIUM ON THE CEREBELLUM TAIPEI, MAY 2018 PP1 1Departments of Neurology, Maynei Hayeshua Medical Center , Bnei Barak , Israel Different types of multiple-synapse boutons in the cerebellar cortex 2 Meir Medical Center, Kfar-Saba, Israel between physically enriched and ataxic mutant mice 3 The Sackler Faculty of Medicine, Tel-Aviv University, Israel Kim H. 1,OhS.1, Lee S.1,NaJ.1, Lee K.J.2, Rhyu I.J.1 Corresponding author’s e-mail: [email protected] 1Department of Anatomy, Korea University College of Medicine, Seoul Objective: To describe the clinical and epidemiological features of the 02841, Korea Jewish Yemenite pocket of Machado-Joseph disease in Israel 2 Laboratory of Synaptic Circuit Plasticity, Department of Structure & Background: Machado-Joseph Disease known also as SCA3 is an Function of Neural Network, Korea Brain Research Institute, Daegu 700- autosomal dominant progressive neurologic disorder due to a hetero- 010, Korea zygous (CAG)n trinucleotide repeat expansion encoding glutamine repeats in the ataxin-3 gene (ATXN3; on chromosome 14q32 , char- Corresponding author’s e-mail: [email protected] acterized principally by ataxia, spasticity, and ocular movement ab- normalities (OMIM # 109150). Traditionally, all patients were consid- Objectives: Experience-dependent synapse remodeling is associated with ered as the offspring of two Portuguese families who lived in the information storage in the nervous system. Neuronal synapses show alter- Azorean islands i.e. the Machado and the Joseph families. Therefore, ation in various neurological and cognitive disorders in their structure and the disease was first known as Azorean Degeneration. -
Cognitive and Psychiatric Disturbances in Parkinsonian Syndromes
Cognitive and Psychiatric Disturbances in Parkinsonian Syndromes Richard M. Zweig, MD*, Elizabeth A. Disbrow, PhD, Vijayakumar Javalkar, PhD KEYWORDS Parkinson Dementia with Lewy Bodies (DLB) Parkinsonian Progressive Supranuclear Palsy (PSP) Multiple System Atrophy (MSA) Corticobasal degeneration (CBD) KEY POINTS Executive dysfunction is often measurable in newly diagnosed Parkinson’s disease. Treatment with dopaminergic medications, particularly dopamine agonists, has been associated with hallucinations and impulse control disorder. While sharing many pathological features with Alzheimer’s disease, distinguishing clinical features of Dementia with Lewy bodies include episodic fluctuations of cognition, early hallucinations, and REM behavior disorder symptoms. Quetiapine appears to be effective for hallucinating patients, without worsening parkin- sonism at lower dosages. Clozapine is also effective. The promising 5-HT2A inverse agonist pimavanserin is awaiting FDA approval. The neuropsychiatric profile of progressive supranuclear palsy may closely resemble that of the frontotemporal lobar degenerations. INTRODUCTION As is the case with all of the neurodegenerative disorders, the subset comprising the parkinsonian syndromes of Parkinson disease, dementia with Lewy bodies, progres- sive supranuclear palsy (PSP), corticobasal degeneration (CBD), and multiple system atrophy (MSA) are considered proteinopathies. In these disorders, disease-associated proteins accumulate in the wrong cellular or extracellular compartments, and are often The authors have nothing to disclose. Department of Neurology, Louisiana State University Health Sciences Center - Shreveport, 1501 King’s Highway, Shreveport, LA 71103, USA * Corresponding author. E-mail address: [email protected] Neurol Clin 34 (2016) 235–246 http://dx.doi.org/10.1016/j.ncl.2015.08.010 neurologic.theclinics.com 0733-8619/16/$ – see front matter Ó 2016 Elsevier Inc. -
Head Drop and Camptocormia
EDITORIAL 1 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.73.1.1 on 1 July 2002. Downloaded from Head drop Table 2 Causes of ................................................................................... camptocormia Head drop and camptocormia Disorders Neuromuscular Motor neuron Amyotrophic lateral T Umapathi, V Chaudhry, D Cornblath, D Drachman, sclerosis17 18 J Griffin, R Kuncl Muscle IBM19 Nemaline myopathy20 ................................................................................... Facioscapulohumeral dystrophy The spectrum of bent spine disorders Parkinsonism Idiopathic21 Postencephalitic22 23 Villiusk encephalomyelitis24 ead ptosis (drop) results from Sodium valproate CASE A 25 weakness of the neck extensor, or toxicity An 80 year old man developed head pto- Idiopathic increased tone of the flexor mus- H sis insidiously over a period of few cles. It is characterised by marked anterior curvature or angulation of the weeks. A week before this he had an cervical spine and is associated with upper respiratory tract infection and also various neuromuscular (table 1) and experienced transient sharp pain over occasional nuclear sacs, target and tar- extrapyramidal disorders.12–15 Campto- the left and then the right shoulder. He getoid fibres as well as myopathic fea- cormia or the bent spine syndrome was had no diplopia, dysarthria, dysphagia, tures such as the presence of hyper- first described in hysterical soldiers in limb weakness, or fatiguability. Exam- trophic and split muscle fibres; a few 1915 by the French neurologist ination showed severe neck extensor necrotic, degenerating and regenerating Souques.16 Typically there is marked weakness, Medical Research Council fibres; increased internalised nuclei, and anterior curvature of the thoracolumbar (MRC) grade 2. Muscle strength was mild endomysial fibrosis. No type group- spine. -
Principles-Of-Autonomic-Medicine-V
Principles of Autonomic Medicine v. 2.1 DISCLAIMERS This work was produced as an Official Duty Activity while the author was an employee of the United States Government. The text and original figures in this book are in the public domain and may be distributed or copied freely. Use of appropriate byline or credit is requested. For reproduction of copyrighted material, permission by the copyright holder is required. The views and opinions expressed here are those of the author and do not necessarily state or reflect those of the United States Government or any of its components. References in this book to specific commercial products, processes, services by trade name, trademark, manufacturer, or otherwise do not necessarily constitute or imply their endorsement, recommendation, or favoring by the United States Government or its employees. The appearance of external hyperlinks is provided with the intent of meeting the mission of the National Institute of Neurological Disorders and Stroke. Such appearance does not constitute an endorsement by the United States Government or any of its employees of the linked web sites or of the information, products or services contained at those sites. Neither the United States Government nor any of its employees, including the author, exercise any editorial control over the information that may be found on these external sites. Permission was obtained from the following for reproduction of pictures in this book. Other reproduced pictures were from -- 1 -- Principles of Autonomic Medicine v. 2.1 Wikipedia Commons or had no copyright. Tootsie Roll Industries, LLC (Tootsie Roll Pop, p. 26) Dr. Paul Greengard (portrait photo, p. -
Multiple System Atrophy Trust Founded by Sarah Matheson
Multiple System Atrophy Trust Founded by Sarah Matheson O T MUmultipleLTIPLE SYSTEMsystem A guide to A A GUIDE AatrophyTROPHY Multiple System Atrophy Trust Our Vision A world free of MSA Our Mission To find the cause, and ultimately, cure for MSA. Until that day we will do all we can to support people affected by MSA and will strive to ensure that they are not alone on their individual journeys. Our contact details are as follows: Telephone: 0333 323 4591 Email: [email protected] MSA Trust Nurse Specialists: Samantha Pavey (South East & East England) T: 0203 371 0003 E: [email protected] Katie Rigg (Scotland, Ireland and North England) T: 01434 381 932 E: [email protected] Jill Lyons (Wales & South West England) T: 01934 316 119 E: [email protected] Multiple System Atrophy Trust @MSAtrust 02 Multiple System Atrophy Trust Most people have never heard of multiple system atrophy (MSA). Many healthcare professionals are unfamiliar with the condition. It is rare, sometimes not recognised and, as you will probably know by now, often difficult to diagnose. The aim of this guide is to explain MSA. It includes information about the symptoms that may occur, what treatment options there are and tries to answer some frequently asked questions. We hope it will help support you and your family but if you have questions or want further advice, please contact us at the Multiple System Atrophy Trust (‘the Trust’). The Multiple System Atrophy Trust offers information, support and education and funds research into MSA.