Ataxia Digest
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Approach to Acute Ataxia in Childhood: Diagnosis and Evaluation Lalitha Sivaswamy, MD
FEATURE Approach to Acute Ataxia in Childhood: Diagnosis and Evaluation Lalitha Sivaswamy, MD opsoclonus myoclonus ataxia syndrome, must receive special mention because the underlying disease process may be ame- nable to surgical intervention. In the tod- dler- and school-age groups, certain condi- tions (such as stroke and acute cerebellitis) require immediate recognition and imag- ing, whereas others (such as post-infec- tious ataxia and concussion) require close follow-up. Finally, mention must be made of diseases outside of the central nervous system that can present with ataxia, such as Guillain-Barré syndrome. he word ataxia is derived from the Greek word ataktos, which T means “lack of order.” Ataxia is characterized by disturbances in the voluntary coordination of posture and movement. In children, it is most prominent during walking (the sine qua non being a staggering gait with impaired tandem), but it can also be present during sitting or standing, or © Shutterstock when the child is performing move- Abstract Lalitha Sivaswamy, MD, is Associate Profes- ments of the arms, legs, or eyes. sor of Pediatrics and Neurology, Department Ataxia refers to motor incoordination that is This review focuses on the etiol- of Neurology, Wayne State University School of usually most prominent during movement ogy and diagnostic considerations for Medicine; and Medical Director, Headache Clinic, or when a child is attempting to maintain a acute ataxia, which for the purposes of Children’s Hospital of Michigan. sitting posture. The first part of the review this discussion refers to ataxia with a Address correspondence to: Lalitha Sivas- focuses on the anatomic localization of symptom evolution time of less than wamy, MD, Department of Neurology, Wayne ataxia — both within the nervous system 72 hours.1 State University School of Medicine, Children’s and without — using a combination of his- Motor coordination requires sensory Hospital of Michigan, 3901 Beaubien, Detroit, MI torical features and physical findings. -
Scientific Opinion
SCIENTIFIC OPINION ADOPTED: DD Month YEAR doi:10.2903/j.efsa.20YY.NNNN 1 Evaluation of the health risks related to the 2 presence of cyanogenic glycosides in foods other than raw 3 apricot kernels 4 5 EFSA Panel on Contaminants in the Food Chain (CONTAM), 6 Margherita Bignami, Laurent Bodin, James Kevin Chipman, Jesús del Mazo, Bettina Grasl- 7 Kraupp, Christer Hogstrand, Laurentius (Ron) Hoogenboom, Jean-Charles Leblanc, Carlo 8 Stefano Nebbia, Elsa Nielsen, Evangelia Ntzani, Annette Petersen, Salomon Sand, Dieter 9 Schrenk, Christiane Vleminckx, Heather Wallace, Diane Benford, Leon Brimer, Francesca 10 Romana Mancini, Manfred Metzler, Barbara Viviani, Andrea Altieri, Davide Arcella, Hans 11 Steinkellner and Tanja Schwerdtle 12 Abstract 13 In 2016, the EFSA CONTAM Panel published a scientific opinion on the acute health risks related to 14 the presence of cyanogenic glycosides (CNGs) in raw apricot kernels in which an acute reference dose 15 (ARfD) of 20 µg/kg bw was established for cyanide (CN). In the present opinion, the CONTAM Panel 16 concluded that this ARfD is applicable for acute effects of CN regardless the dietary source. Estimated 17 mean acute dietary exposures to cyanide from foods containing CNGs did not exceed the ARfD in any 18 age group. At the 95th percentile, the ARfD was exceeded up to about 2.5-fold in some surveys for 19 children and adolescent age groups. The main contributors to exposures were biscuits, juice or nectar 20 and pastries and cakes that could potentially contain CNGs. Taking into account the conservatism in 21 the exposure assessment and in derivation of the ARfD, it is unlikely that this estimated exceedance 22 would result in adverse effects. -
Alcohol Sensitivity As an Endophenotype of Alcohol Use Disorder: Exploring Its Translational Utility Between Rodents and Humans
brain sciences Review Alcohol Sensitivity as an Endophenotype of Alcohol Use Disorder: Exploring Its Translational Utility between Rodents and Humans Clarissa C. Parker 1,*, Ryan Lusk 2 and Laura M. Saba 2,* 1 Department of Psychology and Program in Neuroscience, Middlebury College, Middlebury, VT 05753, USA 2 Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; [email protected] * Correspondence: [email protected] (C.C.P.); [email protected] (L.M.S.) Received: 3 September 2020; Accepted: 9 October 2020; Published: 13 October 2020 Abstract: Alcohol use disorder (AUD) is a complex, chronic, relapsing disorder with multiple interacting genetic and environmental influences. Numerous studies have verified the influence of genetics on AUD, yet the underlying biological pathways remain unknown. One strategy to interrogate complex diseases is the use of endophenotypes, which deconstruct current diagnostic categories into component traits that may be more amenable to genetic research. In this review, we explore how an endophenotype such as sensitivity to alcohol can be used in conjunction with rodent models to provide mechanistic insights into AUD. We evaluate three alcohol sensitivity endophenotypes (stimulation, intoxication, and aversion) for their translatability across human and rodent research by examining the underlying neurobiology and its relationship to consumption and AUD. We show examples in which results gleaned from rodents are successfully integrated with information from human studies to gain insight in the genetic underpinnings of AUD and AUD-related endophenotypes. Finally, we identify areas for future translational research that could greatly expand our knowledge of the biological and molecular aspects of the transition to AUD with the broad hope of finding better ways to treat this devastating disorder. -
Mechanisms of Ethanol-Induced Cerebellar Ataxia: Underpinnings of Neuronal Death in the Cerebellum
International Journal of Environmental Research and Public Health Review Mechanisms of Ethanol-Induced Cerebellar Ataxia: Underpinnings of Neuronal Death in the Cerebellum Hiroshi Mitoma 1,* , Mario Manto 2,3 and Aasef G. Shaikh 4 1 Medical Education Promotion Center, Tokyo Medical University, Tokyo 160-0023, Japan 2 Unité des Ataxies Cérébelleuses, Service de Neurologie, CHU-Charleroi, 6000 Charleroi, Belgium; [email protected] 3 Service des Neurosciences, University of Mons, 7000 Mons, Belgium 4 Louis Stokes Cleveland VA Medical Center, University Hospitals Cleveland Medical Center, Cleveland, OH 44022, USA; [email protected] * Correspondence: [email protected] Abstract: Ethanol consumption remains a major concern at a world scale in terms of transient or irreversible neurological consequences, with motor, cognitive, or social consequences. Cerebellum is particularly vulnerable to ethanol, both during development and at the adult stage. In adults, chronic alcoholism elicits, in particular, cerebellar vermis atrophy, the anterior lobe of the cerebellum being highly vulnerable. Alcohol-dependent patients develop gait ataxia and lower limb postural tremor. Prenatal exposure to ethanol causes fetal alcohol spectrum disorder (FASD), characterized by permanent congenital disabilities in both motor and cognitive domains, including deficits in general intelligence, attention, executive function, language, memory, visual perception, and commu- nication/social skills. Children with FASD show volume deficits in the anterior lobules related to sensorimotor functions (Lobules I, II, IV, V, and VI), and lobules related to cognitive functions (Crus II and Lobule VIIB). Various mechanisms underlie ethanol-induced cell death, with oxidative stress and Citation: Mitoma, H.; Manto, M.; Shaikh, A.G. Mechanisms of endoplasmic reticulum (ER) stress being the main pro-apoptotic mechanisms in alcohol abuse and Ethanol-Induced Cerebellar Ataxia: FASD. -
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 -
Management of Alcohol Use Disorders: a Pocket Reference for Primary Care Providers
Management of alcohol use disorders: A pocket reference for primary care providers Meldon Kahan, MD Edited by Kate Hardy, MSW and Sarah Clarke, PhD Acknowledgments Mentoring, Education, and Clinical Tools for Addiction: Primary Care–Hospital Integration (META:PHI) is an ongoing initiative to improve the experience of addiction care for both patients and providers. The purpose of this initiative is to set up and implement care pathways for addiction, foster mentoring relationships between addiction physicians and other health care providers, and create and disseminate educational materials for addiction care. This pocket guide is excerpted from Safe prescribing practices for addictive medications and management of substance use disorders in primary care: A pocket reference for primary care providers, a quick-reference tool for primary care providers to assist them in implementing best practices for prescribing potentially addictive medications and managing substance use disorders in primary care, endorsed by the College of Family Physicians of Canada. This excerpt is a guide to talking to patients about their alcohol use and managing at-risk drinking and alcohol use disorders. We thank those who have given feedback on this document: Dr. Mark Ben-Aron, Dr. Peter Butt, Dr. Delmar Donald, Dr. Mike Franklyn, Dr. Melissa Holowaty, Dr. Anita Srivastava, and three anonymous CFPC reviewers. We gratefully acknowledge funding and support from the following organizations: Adopting Research to Improve Care (Health Quality Ontario & Council of Academic Hospitals of Ontario) The College of Family Physicians of Canada Toronto Central Local Health Integration Network Women’s College Hospital Version date: December 19, 2017 © 2017 Women’s College Hospital All rights reserved. -
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. -
Medication Use and Driving Risks by Tammie Lee Demler, BS Pharm, Pharmd
CONTINUING EDUCATION Medication Use and Driving Risks by Tammie Lee Demler, BS Pharm, PharmD pon successful completion of this ar- the influence of alcohol has Useful Websites ticle, pharmacists should be able to: long been accepted as one 1. Identify the key functional ele- of the most important causes ■ www.dot.gov/ or http://www.dot.gov/ ments that are required to ensure of traffic accidents and driv- odapc/ competent, safe driving. ing fatalities. Driving under Website of the U.S. Department of 2. Identify the side effects associated with pre- the influence of alcohol has Transportation, which contains trends Uscription, over-the-counter and herbal medi- been studied not only in ex- and law updates. It also contains an cations that can pose risks to drivers. perimental research, but also excellent search engine. 3. Describe the potential impact of certain medi- in epidemiological road side ■ www.mayoclinic.com/health/herbal- cation classes on driving competence. studies. The effort that society supplements/SA00044 4. Describe the pharmacist’s duty to warn re- has made to take serious le- Website for the Mayo Clinic, with garding medications that have the potential to gal action against those who information about herbal supplements. impair a patient’s driving competence. choose to drink and drive It offers an expert blog for further exploration about specific therapies and 5. Provide counseling points to support safe driv- has resulted in the significant to receive/share insight about personal ing in all patients who are receiving medication. deterrents of negative social driving impairment with herbal drugs. stigma and incarceration.