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Cerebellar Ataxia
CEREBELLAR ATAXIA Dr. Waqar Saeed Ziauddin Medical University, Karachi, Pakistan What is Ataxia? ■ Derived from a Greek word, ‘A’ : not, ‘Taxis’ : orderly Ataxia is defined as an inability to maintain normal posture and smoothness of movement. Types of Ataxia ■ Cerebellar Ataxia ■ Sensory Ataxia ■ Vestibular Ataxia Cerebellar Ataxia Cerebrocerebellum Spinocerebellum Vestibulocerebellum Vermis Planning and Equilibrium balance Posture, limb and initiating and posture eye movements movements Limb position, touch and pressure sensation Limb ataxia, Eye movement dysdiadochokinesia, disorders, Truncal and gait Dysmetria dysarthria nystagmus, VOR, ataxia hypotonia postural and gait. Gait ataxia Types of Cerebellar Ataxia • Vascular Acute Ataxia • Medications and toxins • Infectious etiologies • Atypical Infectious agents • Autoimmune disorders • Primary or metastatic tumors Subacute Ataxia • Paraneoplastic cerebellar degeneration • Alcohol abuse and Vitamin deficiencies • Systemic disorders • Autosomal Dominant Chronic • Autosomal recessive Progressive • X linked ataxias • Mitochondrial • Sporadic neurodegenerative diseases Vascular Ataxia ▪ Benedikt Syndrome It is a rare form of posterior circulation stroke of the brain. A lesion within the tegmentum of the midbrain can produce Benedikt Syndrome. Disease is characterized by ipsilateral third nerve palsy with contralateral hemitremor. Superior cerebellar peduncle and/or red nucleus damage in Benedikt Syndrome can further lead in to contralateral cerebellar hemiataxia. ▪ Wallenberg Syndrome In -
Spinocerebellar Ataxia Type 29 Due to Mutations in ITPR1: a Case Series and Review of This Emerging Congenital Ataxia Jessica L
Zambonin et al. Orphanet Journal of Rare Diseases (2017) 12:121 DOI 10.1186/s13023-017-0672-7 RESEARCH Open Access Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Jessica L. Zambonin1*, Allison Bellomo2, Hilla Ben-Pazi3, David B. Everman2, Lee M. Frazer2, Michael T. Geraghty4, Amy D. Harper5, Julie R. Jones2, Benjamin Kamien6, Kristin Kernohan1,4, Mary Kay Koenig7, Matthew Lines4, Elizabeth Emma Palmer8,9, Randal Richardson10, Reeval Segel11, Mark Tarnopolsky12, Jason R. Vanstone4, Melissa Gibbons13, Abigail Collins14, Brent L. Fogel15, Care4Rare Canada Consortium, Tracy Dudding-Byth16 and Kym M. Boycott1,4 Abstract Background: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible. Results: Clinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family. We describe the genetic, clinical and neuroimaging features of these patients to further characterize the clinical features of this rare condition and assess for any genotype-phenotype correlation for this disorder. Our cohort consisted of 9 males and 12 females, with ages ranging from 28 months to 49 years. Disease course was non-progressive with infantile-onset hypotonia and delays in motor and speech development. Gait ataxia was present in all individuals and 10 (48%) were not ambulating independently between the ages of 3–12 years of age. -
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. -
Molecular Diagnostics of Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies
17_Lupski 3/30/06 1:47 PM Page 243 NeuroMolecular Medicine Copyright © 2006 Humana Press Inc. All rights of any nature whatsoever reserved. ISSN0895-8696/06/08:243–254/$30.00 doi: 10.1385/NMM:8:1:243 REVIEW ARTICLE Molecular Diagnostics of Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies Kinga Szigeti,1 Eva Nelis,2,3 and James R. Lupski*,1,4 1Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; 2Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium; 3Laboratory of Neurogenetics, Institute Born-Borge, University of Antwerp, Antwerpen, Belgium; and 4Pediatrics, Baylor College of Medicine, and Texas Children Hospital, Houston, TX 77030 Received January 10, 2006; Revised January 13, 2006; Accepted January 13, 2006 Abstract DNAdiagnostics plays an important role in the characterization and management of patients manifesting inherited peripheral neuropathies. We describe the clinical integration of molecular diagnostics with medical history, physical examination, and electrophysiological studies. Mole- cular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies. doi: 10.1385/NMM:8:1:243 Index Entries:Molecular diagnostics; Charcot-Marie-Tooth disease; CMT; hereditary neuropathy with liability to pressure palsies; HNPP; Dejerine-Sottas neuropathy; DSN; congenital hypomyelinating neuropathy; CHN; CMT1A duplication; HNPP deletion. Introduction genetic testing, one needs to be familiar with the diagnostic tests available, choose the appropriate Molecular genetic diagnosis has become an inte- patients for testing, and utilize the diagnostic tools gral part of the evaluation of patients with hered- in a logical fashion to optimize the use of resources. -
Efficacy of Rhythmic Auditory Stimulation on Ataxia and Functional Dependence Post- Cerebellar Stroke" (2020)
Yale University EliScholar – A Digital Platform for Scholarly Publishing at Yale Yale School of Medicine Physician Associate Program Theses School of Medicine 5-22-2020 Efficacy of Rhythmicudit A ory Stimulation on Ataxia and Functional Dependence Post-Cerebellar Stroke Kaitlin Fitzgerald Yale Physician Associate Program, [email protected] Follow this and additional works at: https://elischolar.library.yale.edu/ysmpa_theses Recommended Citation Fitzgerald, Kaitlin, "Efficacy of Rhythmic Auditory Stimulation on Ataxia and Functional Dependence Post- Cerebellar Stroke" (2020). Yale School of Medicine Physician Associate Program Theses. 13. https://elischolar.library.yale.edu/ysmpa_theses/13 This Open Access Thesis is brought to you for free and open access by the School of Medicine at EliScholar – A Digital Platform for Scholarly Publishing at Yale. It has been accepted for inclusion in Yale School of Medicine Physician Associate Program Theses by an authorized administrator of EliScholar – A Digital Platform for Scholarly Publishing at Yale. For more information, please contact [email protected]. EFFICACY OF RHYTHMIC AUDITORY STIMULATION ON ATAXIA AND FUNCTIONAL DEPENDENCE POST-CEREBELLAR STROKE A Thesis Presented to The Faculty of the School of Medicine Yale University In Candidacy for the degree of Master of Medical Science May 2020 Kaitlin Fitzgerald, PA-SII Dr. Diana Richardson, MD Class of 2020 Assistant Clinical Professor Yale Physician Associate Program. Yale School of Medicine, Neurology i Table of Contents ABSTRACT -
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 -
Cognitive Impairments in Patients with Congenital Nonprogressive Cerebellar Ataxia
1/26/2011 Cognitive impairments in patients with… Articles Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia Maja Steinlin, MD, Marianne Styger, LicPhil and Eugen Boltshauser, MD + Author Affiliations Address correspondence and reprint requests to Dr. Maja Steinlin, Division of Neurology, University Children’s Hospital, Inselspital, 3010 Bern, Switzerland; e-mail: [email protected] Abstract Objective: To report neuropsychologic functions and developmental problems of patients with congenital nonprogressive cerebellar ataxia. Background: Growing interest in cerebellar function has prompted closer attention to cognitive impairments in patients with cerebellar damage. Methods: The authors studied 11 patients with nonprogressive congenital ataxia (NPCA) with Wechsler’s intelligence testing, with additional tests of attention, memory, language, visual perception, and frontal functions. Results: Seven of the 11 patients had an IQ of 60 to 92, with marked nonverbal deficits and subnormal to normal verbal performance (group A). Four patients had an IQ of 30 to 49 without pronounced profile asymmetry (group B). Four of the 7 group A patients had decreased alertness and sustained attention, but all had normal selective attention. Tests of frontal functions and memory yielded higher verbal scores than nonverbal scores. There was no deficit on the Aachener Naming Test (similar to the Boston Naming Test), because there were marked difficulties in the majority with visuoconstructive tasks and visual perception. Group B was significantly abnormal in almost all subtests, having a less prominent but similar profile. Conclusion: Patients with NPCA have significant cognitive deficits with an asymmetric profile and better verbal than nonverbal performance. Effects on nonverbal performance of longstanding deficits in visuospatial input during learning, the influence of impaired procedural learning, and asymmetric plasticity of the cerebral hemispheres may contribute to this uneven neuropsychological profile. -
Four Effective and Feasible Interventions for Hemi-Inattention
University of Puget Sound Sound Ideas School of Occupational Master's Capstone Projects Occupational Therapy, School of 5-2016 Four Effective and Feasible Interventions for Hemi- inattention Post CVA: Systematic Review and Collaboration for Knowledge Translation in an Inpatient Rehab Setting. Elizabeth Armbrust University of Puget Sound Domonique Herrin University of Puget Sound Christi Lewallen University of Puget Sound Karin Van Duzer University of Puget Sound Follow this and additional works at: http://soundideas.pugetsound.edu/ot_capstone Part of the Occupational Therapy Commons Recommended Citation Armbrust, Elizabeth; Herrin, Domonique; Lewallen, Christi; and Van Duzer, Karin, "Four Effective and Feasible Interventions for Hemi-inattention Post CVA: Systematic Review and Collaboration for Knowledge Translation in an Inpatient Rehab Setting." (2016). School of Occupational Master's Capstone Projects. 4. http://soundideas.pugetsound.edu/ot_capstone/4 This Article is brought to you for free and open access by the Occupational Therapy, School of at Sound Ideas. It has been accepted for inclusion in School of Occupational Master's Capstone Projects by an authorized administrator of Sound Ideas. For more information, please contact [email protected]. INTERVENTIONS FOR HEMI-INATTENTION IN INPATIENT REHAB Four Effective and Feasible Interventions for Hemi-inattention Post CVA: Systematic Review and Collaboration for Knowledge Translation in an Inpatient Rehab Setting. May 2016 This evidence project, submitted by Elizabeth Armbrust, -
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. -
Ataxia Digest
Ataxia Digest 2015 Vol. 2 News from the Johns Hopkins Ataxia Center 2016 What is Ataxia? Ataxia is typically defined as the presence of Regardless of the type of ataxia a person may have, it abnormal, uncoordinated movements. This term is is important for all individuals with ataxia to seek proper most often, but not always, used to describe a medical attention. For the vast majority of ataxias, a neurological symptom caused by dysfunction of the treatment or cure for the disease is not yet available, so cerebellum. The cerebellum is responsible for many the focus is on identifying symptoms related to or motor functions, including the coordination of caused by the ataxia. By identifying the symptoms of voluntary movements and the maintenance of balance ataxia it becomes possible to treat those symptoms and posture. through medication, physical therapy, exercise, other therapies and sometimes medications. Those with cerebellar ataxia often have an “ataxic” gait, which is walking The Johns Hopkins Ataxia Center has a that appears unsteady, uncoordinated multidisciplinary clinical team that is dedicated to and staggered. Other activities that helping those affected by ataxia. The center has trained require fine motor control like writing, specialist ranging from neurologists, nurses, reading, picking up objects, speaking rehabilitation specialists, genetic counselors, and many clearly and swallowing may be others. This edition of the Ataxia Digest will provide abnormal. Symptoms vary depending you with information on living with ataxia and the on the cause of the ataxia and are multidisciplinary center at Johns Hopkins. specific to each person. Letter from the Director Welcome to the second edition of the Ataxia Digest. -
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. -
26 Aphasia, Memory Loss, Hemispatial Neglect, Frontal Syndromes and Other Cerebral Disorders - - 8/4/17 12:21 PM )
1 Aphasia, Memory Loss, 26 Hemispatial Neglect, Frontal Syndromes and Other Cerebral Disorders M.-Marsel Mesulam CHAPTER The cerebral cortex of the human brain contains ~20 billion neurons spread over an area of 2.5 m2. The primary sensory and motor areas constitute 10% of the cerebral cortex. The rest is subsumed by modality- 26 selective, heteromodal, paralimbic, and limbic areas collectively known as the association cortex (Fig. 26-1). The association cortex mediates the Aphasia, Memory Hemispatial Neglect, Frontal Syndromes and Other Cerebral Disorders Loss, integrative processes that subserve cognition, emotion, and comport- ment. A systematic testing of these mental functions is necessary for the effective clinical assessment of the association cortex and its dis- eases. According to current thinking, there are no centers for “hearing words,” “perceiving space,” or “storing memories.” Cognitive and behavioral functions (domains) are coordinated by intersecting large-s- cale neural networks that contain interconnected cortical and subcortical components. Five anatomically defined large-scale networks are most relevant to clinical practice: (1) a perisylvian network for language, (2) a parietofrontal network for spatial orientation, (3) an occipitotemporal network for face and object recognition, (4) a limbic network for explicit episodic memory, and (5) a prefrontal network for the executive con- trol of cognition and comportment. Investigations based on functional imaging have also identified a default mode network, which becomes activated when the person is not engaged in a specific task requiring attention to external events. The clinical consequences of damage to this network are not yet fully defined. THE LEFT PERISYLVIAN NETWORK FOR LANGUAGE AND APHASIAS The production and comprehension of words and sentences is depen- FIGURE 26-1 Lateral (top) and medial (bottom) views of the cerebral dent on the integrity of a distributed network located along the peri- hemispheres.