Ataxia and Tremor in People with Multiple Sclerosis (MS)
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Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia
The Journal of Neuroscience, February 25, 2004 • 24(8):1987–1995 • 1987 Neurobiology of Disease Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia Delphine Simon,1 Herve´ Seznec,1 Anne Gansmuller,1 Nade`ge Carelle,1 Philipp Weber,1 Daniel Metzger,1 Pierre Rustin,2 Michel Koenig,1 and He´le`ne Puccio1 1Institut de Ge´ne´tique et de Biologie Mole´culaire et Cellulaire, Centre National de la Recherche Scientifique/Institut National de la Sante´ et de la Recherche Me´dicale (INSERM)/Universite´ Louis Pasteur, 67404 Illkirch cedex, CU de Strasbourg, France, and 2Unite´ de Recherches sur les Handicaps Ge´ne´tiques de l’Enfant, INSERM U393, Hoˆpital Necker-Enfants Malades, 75015 Paris, France Friedreich ataxia (FRDA), the most common recessive ataxia, is characterized by degeneration of the large sensory neurons of the spinal cord and cardiomyopathy. It is caused by severely reduced levels of frataxin, a mitochondrial protein involved in iron–sulfur cluster (ISC) biosynthesis. Through a spatiotemporally controlled conditional gene-targeting approach, we have generated two mouse models for FRDA that specifically develop progressive mixed cerebellar and sensory ataxia, the most prominent neurological features of FRDA. Histological studies showed both spinal cord and dorsal root ganglia (DRG) anomalies with absence of motor neuropathy, a hallmark of the human disease. In addition, one line revealed a cerebellar granule cell loss, whereas both lines had Purkinje cell arborization defects. These lines represent the first FRDA models with a slowly progressive neurological degeneration. We identified an autophagic process as the causative pathological mechanism in the DRG, leading to removal of mitochondrial debris and apparition of lipofuscin deposits. -
TWITCH, JERK Or SPASM Movement Disorders Seen in Family Practice
TWITCH, JERK or SPASM Movement Disorders Seen in Family Practice J. Antonelle de Marcaida, M.D. Medical Director Chase Family Movement Disorders Center Hartford HealthCare Ayer Neuroscience Institute DEFINITION OF TERMS • Movement Disorders – neurological syndromes in which there is either an excess of movement or a paucity of voluntary and automatic movements, unrelated to weakness or spasticity • Hyperkinesias – excess of movements • Dyskinesias – unnatural movements • Abnormal Involuntary Movements – non-suppressible or only partially suppressible • Hypokinesia – decreased amplitude of movement • Bradykinesia – slowness of movement • Akinesia – loss of movement CLASSES OF MOVEMENTS • Automatic movements – learned motor behaviors performed without conscious effort, e.g. walking, speaking, swinging of arms while walking • Voluntary movements – intentional (planned or self-initiated) or externally triggered (in response to external stimulus, e.g. turn head toward loud noise, withdraw hand from hot stove) • Semi-voluntary/“unvoluntary” – induced by inner sensory stimulus (e.g. need to stretch body part or scratch an itch) or by an unwanted feeling or compulsion (e.g. compulsive touching, restless legs syndrome) • Involuntary movements – often non-suppressible (hemifacial spasms, myoclonus) or only partially suppressible (tremors, chorea, tics) HYPERKINESIAS: major categories • CHOREA • DYSTONIA • MYOCLONUS • TICS • TREMORS HYPERKINESIAS: subtypes Abdominal dyskinesias Jumpy stumps Akathisic movements Moving toes/fingers Asynergia/ataxia -
Abadie's Sign Abadie's Sign Is the Absence Or Diminution of Pain Sensation When Exerting Deep Pressure on the Achilles Tendo
A.qxd 9/29/05 04:02 PM Page 1 A Abadie’s Sign Abadie’s sign is the absence or diminution of pain sensation when exerting deep pressure on the Achilles tendon by squeezing. This is a frequent finding in the tabes dorsalis variant of neurosyphilis (i.e., with dorsal column disease). Cross References Argyll Robertson pupil Abdominal Paradox - see PARADOXICAL BREATHING Abdominal Reflexes Both superficial and deep abdominal reflexes are described, of which the superficial (cutaneous) reflexes are the more commonly tested in clinical practice. A wooden stick or pin is used to scratch the abdomi- nal wall, from the flank to the midline, parallel to the line of the der- matomal strips, in upper (supraumbilical), middle (umbilical), and lower (infraumbilical) areas. The maneuver is best performed at the end of expiration when the abdominal muscles are relaxed, since the reflexes may be lost with muscle tensing; to avoid this, patients should lie supine with their arms by their sides. Superficial abdominal reflexes are lost in a number of circum- stances: normal old age obesity after abdominal surgery after multiple pregnancies in acute abdominal disorders (Rosenbach’s sign). However, absence of all superficial abdominal reflexes may be of localizing value for corticospinal pathway damage (upper motor neu- rone lesions) above T6. Lesions at or below T10 lead to selective loss of the lower reflexes with the upper and middle reflexes intact, in which case Beevor’s sign may also be present. All abdominal reflexes are preserved with lesions below T12. Abdominal reflexes are said to be lost early in multiple sclerosis, but late in motor neurone disease, an observation of possible clinical use, particularly when differentiating the primary lateral sclerosis vari- ant of motor neurone disease from multiple sclerosis. -
Movement Disorders in the Elderly
MOVEMENT DISORDERS IN THE ELDERLY Eugene C. Lai, M.D., Ph.D. Michael E. DeBakey VA Medical Center Baylor College of Medicine Houston, Texas MOVEMENT DISORDERS Neurologic dysfunctions in which there is either a paucity of voluntary and automatic movements (HYPOKINESIA) or an excess of movement (HYPERKINESIA) or uncontrolled movements (DYSKINESIA) typically unassociated with weakness or spasticity HYPOKINESIAS • Parkinson‟s disease • Secondary Parkinsonism • Parkinson‟s plus syndromes HYPERKINESIAS • Akathisia • Hemifacial spasm • Athetosis • Myoclonus • Ballism • Restless leg syndrome • Chorea • Tics • Dystonia • Tremor COMMON MOVEMENT DISORDERS IN THE ELDERLY • Parkinsonism • Tremor • Gait disorder • Restless leg syndrome • Drug-induced syndrome PARKINSONISM • Parkinson‟s disease • Secondary parkinsonism • Drug-induced parkinsonism • Vascular parkinsonism • Parkinson‟s plus syndromes • Multiple system atrophy • Progressive supranuclear palsy PARKINSON’S DISEASE PARKINSON’S DISEASE Classical Clinical Features • Resting Tremor • Cogwheel Rigidity • Bradykinesia • Postural Instability PARKINSON’S DISEASE Associated Clinical Features • Micrographia • Hypophonia • Hypomimia • Shuffling gait / festination • Drooling • Dysphagia NON-MOTOR COMPLICATIONS IN PARKINSON’S DISEASE • Sleep disturbances • Autonomic dysfunctions • Sensory phenomena • Neuropsychiatric manifestations • Cognitive impairment PARKINSON’S DISEASE General Considerations • The second most common progressive neurodegenerative disorder • The most common neurodegenerative movement -
A Dictionary of Neurological Signs
FM.qxd 9/28/05 11:10 PM Page i A DICTIONARY OF NEUROLOGICAL SIGNS SECOND EDITION FM.qxd 9/28/05 11:10 PM Page iii A DICTIONARY OF NEUROLOGICAL SIGNS SECOND EDITION A.J. LARNER MA, MD, MRCP(UK), DHMSA Consultant Neurologist Walton Centre for Neurology and Neurosurgery, Liverpool Honorary Lecturer in Neuroscience, University of Liverpool Society of Apothecaries’ Honorary Lecturer in the History of Medicine, University of Liverpool Liverpool, U.K. FM.qxd 9/28/05 11:10 PM Page iv A.J. Larner, MA, MD, MRCP(UK), DHMSA Walton Centre for Neurology and Neurosurgery Liverpool, UK Library of Congress Control Number: 2005927413 ISBN-10: 0-387-26214-8 ISBN-13: 978-0387-26214-7 Printed on acid-free paper. © 2006, 2001 Springer Science+Business Media, Inc. All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer Science+Business Media, Inc., 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dis- similar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to propri- etary rights. While the advice and information in this book are believed to be true and accurate at the date of going to press, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omis- sions that may be made. -
The Clinical Approach to Movement Disorders Wilson F
REVIEWS The clinical approach to movement disorders Wilson F. Abdo, Bart P. C. van de Warrenburg, David J. Burn, Niall P. Quinn and Bastiaan R. Bloem Abstract | Movement disorders are commonly encountered in the clinic. In this Review, aimed at trainees and general neurologists, we provide a practical step-by-step approach to help clinicians in their ‘pattern recognition’ of movement disorders, as part of a process that ultimately leads to the diagnosis. The key to success is establishing the phenomenology of the clinical syndrome, which is determined from the specific combination of the dominant movement disorder, other abnormal movements in patients presenting with a mixed movement disorder, and a set of associated neurological and non-neurological abnormalities. Definition of the clinical syndrome in this manner should, in turn, result in a differential diagnosis. Sometimes, simple pattern recognition will suffice and lead directly to the diagnosis, but often ancillary investigations, guided by the dominant movement disorder, are required. We illustrate this diagnostic process for the most common types of movement disorder, namely, akinetic –rigid syndromes and the various types of hyperkinetic disorders (myoclonus, chorea, tics, dystonia and tremor). Abdo, W. F. et al. Nat. Rev. Neurol. 6, 29–37 (2010); doi:10.1038/nrneurol.2009.196 1 Continuing Medical Education online 85 years. The prevalence of essential tremor—the most common form of tremor—is 4% in people aged over This activity has been planned and implemented in accordance 40 years, increasing to 14% in people over 65 years of with the Essential Areas and policies of the Accreditation Council age.2,3 The prevalence of tics in school-age children and for Continuing Medical Education through the joint sponsorship of 4 MedscapeCME and Nature Publishing Group. -
Ataxia in Children: Early Recognition and Clinical Evaluation Piero Pavone1,6*, Andrea D
Pavone et al. Italian Journal of Pediatrics (2017) 43:6 DOI 10.1186/s13052-016-0325-9 REVIEW Open Access Ataxia in children: early recognition and clinical evaluation Piero Pavone1,6*, Andrea D. Praticò2,3, Vito Pavone4, Riccardo Lubrano5, Raffaele Falsaperla1, Renata Rizzo2 and Martino Ruggieri2 Abstract Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex. A careful history, physical examination and some characteristic maneuvers are useful for the diagnosis of ataxia. Some of the causes of ataxia point toward a benign course, but some cases of ataxia can be severe and particularly frightening. Methods: Here, we describe the primary clinical ways of detecting ataxia, a sign not easily recognizable in children. We also report on the main disorders that cause ataxia in children. Results: The causal events are distinguished and reported according to the course of the disorder: acute, intermittent, chronic-non-progressive and chronic-progressive. Conclusions: Molecular research in the field of ataxia in children is rapidly expanding; on the contrary no similar results have been attained in the field of the treatment since most of the congenital forms remain fully untreatable. Rapid recognition and clinical evaluation of ataxia in children remains of great relevance for therapeutic results and prognostic counseling. Keywords: Ataxia, Diagnostic maneuvers, Acute cerebellitis, Cerebellar syndrome, Cerebellar malformations Background Clinical signs in cerebellar ataxic patients are related to Ataxia in children is a common clinical sign of various impaired localization. -
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RESIDENT & FELLOW SECTION Clinical Reasoning: Section Editor An 82-year-old man with worsening gait John J. Millichap, MD Sheena Chew, MD SECTION 1 neck and left leg cramps. He denied bowel or bladder Ivana Vodopivec, MD, An 82-year-old man with hypothyroidism presented symptoms. PhD with difficulty walking. The patient was previously healthy, playing com- Aaron L. Berkowitz, MD, One year prior to presentation, he noticed that his petitive sports at the national level into his late 70s. PhD legs occasionally “froze” when initiating walking. His His only medication was levothyroxine. gait progressively worsened over the year. He devel- oped balance difficulty, tripping and falling twice Question for consideration: Correspondence to without loss of consciousness. In the 4 months prior Dr. Chew: to presentation, he started using a cane, a rolling 1. What examination findings would help to localize [email protected] walker, then a wheelchair. He reported occasional the etiology of his abnormal gait? GO TO SECTION 2 From the Department of Neurology, Brigham and Women’s Hospital (S.C., I.V., A.L.B.), and Department of Neurology, Massachusetts General Hospital (S.C.), Harvard Medical School, Boston. Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article. e246 © 2017 American Academy of Neurology ª 2017 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. SECTION 2 arm dysdiadochokinesia and right leg dysmetria, but The neurologic basis of gait spans the entire neuraxis, no left-sided or truncal ataxia. -
Pseudoathetosis in the Spectrum of Alcoholic Neurotoxicity: Presentation and Management
Nachane & Nayak: Pseudoathetosis 154 Case Report Pseudoathetosis in the spectrum of alcoholic neurotoxicity: presentation and management Hrishikesh B. Nachane1, Ajita S. Nayak2 1Assistant Professor, Department of Psychiatry, T.N.M.C. and B.Y.L. Nair Ch. Hospital, Mumbai 2Professor and Head, Department of Psychiatry, K.E.M. Hospital and Seth G.S. Medical college, Mumbai Corresponding author: Hrishikesh Nachane Email – [email protected] ABSTRACT Pseudoathetosis, a proprioceptive abnormality, refers to a movement disorder consisting of involuntary, slow, writhing movements of the fingers. Although many causes for pseudoathetosis have been documented previously, such as multiple sclerosis, myelitis, leprosy, vitamin B12 deficiency, trauma, etc. it has not been previously described in a case of alcohol use disorder. A 50 years old man with chronic alcoholism presented to us with cognitive impairment, cerebellar signs and slow writhing movements of his fingers. Upon detailed investigations, no vitamin deficiency was detected. The patient was managed with a combination of nutritional supplementation, Memantine and Quetiapine, and had complete reversal of pseudoathetosis. The authors imply that pseudoathetosis can be a presentation of alcoholic neurotoxicity, co-occurring with cortico-cerebellar dysfunction, and can manifest irrespective of nutritional status of the patient. Key words: Pseudoathetosis, alcohol, neurotoxicity (Paper received – 5th January 2020, Peer review completed – 20th February 2020) (Accepted – 28th February 2020) INTRODUCTION With increase in alcohol consumption across India, there has been a steady rise in alcohol related complications [1]. The spectrum of alcoholic neurotoxicity is vast: covering dementia, Wernicke-Korsakoff syndrome, myelopathy to peripheral neuropathy. These conditions are not only challenging to diagnose, but downright difficult to treat [2]. -
Disorders of Cerebellum
DISORDERS OF CEREBELLUM DR AFREEN KHAN ASSISTANT PROFESSOR, DEPT OF MEDICINE, HAMDARD INSTITUTE OF MEDICAL SCIENCES & RESEARCH, NEW DELHI DATE:05/05/2020 ANATOMY • Lies just dorsal to the pons and medulla, consists of two highly convoluted lateral cerebellar hemispheres and a narrow medial portion, the vermis. • It is connected to the brain by three pairs of dense fiber bundles called the peduncles • Cortex folded into folia ANATOMY FUNCTIONAL ANATOMY • Archicerebellum • flocculonodular lobe • helps maintain equilibrium and coordinate eye, head, and neck movements; it is closely interconnected with the vestibular nuclei. • Paleocerebellum • vermis of the anterior lobe, the pyramid, the uvula, and the paraflocculus • It helps coordinate trunk and leg movements. Vermis lesions result in abnormalities of stance and gait. • Neocerebellum • middle portion of the vermis and most of the cerebellar hemispheres • They control quick and finely coordinated limb movements, predominantly of the arms. PHYSIOLOGY • Receives a tremendous number of inputs from the spinal cord and from many regions of both the cortical and subcortical brain. • Receives extensive information from somesthetic, vestibular, visual, and auditory sensory systems, as well as from motor and nonmotor areas of the cerebral cortex • WHILE THE CEREBELLUM DOES NOT SERVE TO INITIATE MOST MOVEMENT, IT PROMOTES THE SYNCHRONY AND ACCURACY OF MOVEMENT REQUIRED FOR PURPOSEFUL MOTOR ACTIVITY BASIC CHARACTERISTICS OF CEREBELLAR SIGNS & SYMPTOMS • Lesions of the cerebellum produce errors in the planning and execution of movements, rather than paralysis or involuntary movements. • In general, if symptoms predominate in the trunk and legs, the lesion is near the midline; if symptoms are more obvious in the arms, the lesion is in the lateral hemispheres. -
GAIT DISORDERS, FALLS, IMMOBILITY Mov7 (1)
GAIT DISORDERS, FALLS, IMMOBILITY Mov7 (1) Gait Disorders, Falls, Immobility Last updated: April 17, 2019 GAIT DISORDERS ..................................................................................................................................... 1 CLINICAL FEATURES .............................................................................................................................. 1 CLINICO-ANATOMICAL SYNDROMES .............................................................................................. 1 CLINICO-PHYSIOLOGICAL SYNDROMES ......................................................................................... 1 Dyssynergy Syndromes .................................................................................................................... 1 Frontal gait ............................................................................................................................ 2 Sensory Gait Syndromes .................................................................................................................. 2 Sensory ataxia ........................................................................................................................ 2 Vestibular ataxia .................................................................................................................... 2 Visual ataxia .......................................................................................................................... 2 Multisensory disequilibrium ................................................................................................. -
Handbook on Clinical Neurology and Neurosurgery
Alekseenko YU.V. HANDBOOK ON CLINICAL NEUROLOGY AND NEUROSURGERY FOR STUDENTS OF MEDICAL FACULTY Vitebsk - 2005 УДК 616.8+616.8-089(042.3/;4) ~ А 47 Алексеенко Ю.В. А47 Пособие по неврологии и нейрохирургии для студентов факуль тета подготовки иностранных граждан: пособие / составитель Ю.В. Алексеенко. - Витебск: ВГМ У, 2005,- 495 с. ISBN 985-466-119-9 Учебное пособие по неврологии и нейрохирургии подготовлено в соответствии с типовой учебной программой по неврологии и нейрохирургии для студентов лечебного факультетов медицинских университетов, утвержденной Министерством здравоохра нения Республики Беларусь в 1998 году В учебном пособии представлены ключевые разделы общей и частной клиниче ской неврологии, а также нейрохирургии, которые имеют большое значение в работе врачей общей медицинской практики и системе неотложной медицинской помощи: за болевания периферической нервной системы, нарушения мозгового кровообращения, инфекционно-воспалительные поражения нервной системы, эпилепсия и судорожные синдромы, демиелинизирующие и дегенеративные поражения нервной системы, опу холи головного мозга и черепно-мозговые повреждения. Учебное пособие предназначено для студентов медицинского университета и врачей-стажеров, проходящих подготовку по неврологии и нейрохирургии. if' \ * /’ L ^ ' i L " / УДК 616.8+616.8-089(042.3/.4) ББК 56.1я7 б.:: удгритний I ISBN 985-466-119-9 2 CONTENTS Abbreviations 4 Motor System and Movement Disorders 5 Motor Deficit 12 Movement (Extrapyramidal) Disorders 25 Ataxia 36 Sensory System and Disorders of Sensation