Gait Disorders in Older Adults Neil B
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Multiplex Families with Multiple System Atrophy
ORIGINAL CONTRIBUTION Multiplex Families With Multiple System Atrophy Kenju Hara, MD, PhD; Yoshio Momose, MD, PhD; Susumu Tokiguchi, MD, PhD; Mitsuteru Shimohata, MD, PhD; Kenshi Terajima, MD, PhD; Osamu Onodera, MD, PhD; Akiyoshi Kakita, MD, PhD; Mitsunori Yamada, MD, PhD; Hitoshi Takahashi, MD, PhD; Motoyuki Hirasawa, MD, PhD; Yoshikuni Mizuno, MD, PhD; Katsuhisa Ogata, MD, PhD; Jun Goto, MD, PhD; Ichiro Kanazawa, MD, PhD; Masatoyo Nishizawa, MD, PhD; Shoji Tsuji, MD, PhD Background: Multiple system atrophy (MSA) has Results: Consanguineous marriage was observed in 1 been considered a sporadic disease, without patterns of of 4 families. Among 8 patients, 1 had definite MSA, 5 inheritance. had probable MSA, and 2 had possible MSA. The most frequent phenotype was MSA with predominant parkin- Objective: To describe the clinical features of 4 multi- sonism, observed in 5 patients. Six patients showed pon- plex families with MSA, including clinical genetic tine atrophy with cross sign or slitlike signal change at aspects. the posterolateral putaminal margin or both on brain mag- netic resonance imaging. Possibilities of hereditary atax- Design: Clinical and genetic study. ias, including SCA1 (ataxin 1, ATXN1), SCA2 (ATXN2), Machado-Joseph disease/SCA3 (ATXN1), SCA6 (ATXN1), Setting: Four departments of neurology in Japan. SCA7 (ATXN7), SCA12 (protein phosphatase 2, regula- tory subunit B,  isoform; PP2R2B), SCA17 (TATA box Patients: Eight patients in 4 families with parkinson- binding protein, TBP) and DRPLA (atrophin 1; ATN1), ism, cerebellar ataxia, and autonomic failure with age at ␣ onset ranging from 58 to 72 years. Two siblings in each were excluded, and no mutations in the -synuclein gene family were affected with these conditions. -
A Syndrome-Based Clinical Approach for Clerkship Students General Comments 1. This Is Not an All-Inclusive “Cookbook” for Ev
A Syndrome-Based Clinical Approach for Clerkship Students General Comments 1. This is not an all-inclusive “cookbook” for every Neurology patient, but a set of guidelines to help you rationally approach patients with certain syndromes (sets of signs and symptoms which suggest a lesion in particular parts of the nervous system). 2. As you obtain a history and perform a neurological physical exam, try initially to localize all the patient’s signs and symptoms to one, single lesion in the nervous system. It may be surprising that a variety of signs and symptoms, at first glance apparently unrelated, on second thought can localize accurately to a single lesion. If this approach fails, then consider multiple, separate lesions for the patient’s signs and symptoms. 3. The tempo or rate at which signs and symptoms develop or occur often suggests the underlying pathological process. a. sudden onset---favors stroke (ischemia or hemorrhage), seizure, migraine (or other headache syndromes), and trauma b. subacute onset---favors inflammatory, infectious or immune-mediated disorders c. chronic onset---favors degenerative disorders, tumors Toximetabolic disorders, potentially treatable and reversible, may mimic lesions in the nervous system, and can evolve at variable tempos. Hereditary conditions may be congenital (present at birth) and nonprogressive or static, or develop later in life, with variable rates of progression. Family members affected by the same genetic disorder may be remarkably similar with regards to onset and clinical severity, while some genetic disorders vary widely regarding when and how severely family members are affected. 4. In the central nervous system, “positive symptoms or phenomena,” such as flashes of light, or a tingling sensation, suggest “excitation” or increased activity in the nervous system: migraine or seizure. -
Serial Tap Test of Patients with Idiopathic Normal Pressure
da Rocha et al. Fluids Barriers CNS (2021) 18:22 https://doi.org/10.1186/s12987-021-00254-3 Fluids and Barriers of the CNS RESEARCH Open Access Serial Tap Test of patients with idiopathic normal pressure hydrocephalus: impact on cognitive function and its meaning Samanta Fabrício Blattes da Rocha1* , Pedro André Kowacs1,2, Ricardo Krause Martinez de Souza1, Matheus Kahakura Franco Pedro1, Ricardo Ramina1 and Hélio A. Ghizoni Teive3 Abstract Background: Idiopathic normal pressure hydrocephalus (INPH) is characterized by gait disturbance, urinary incon- tinence and cognitive decline. Symptoms are potentially reversible and treatment is based on cerebrospinal fuid shunting. The tap test (TT) is used to identify patients that will beneft from surgery. This procedure consists of the withdrawal of 20 to 50 mL of cerebrospinal fuid (CSF) through a lumbar puncture (LP) after which the symptoms of the triad are tested. Improvement in the quality and speed of gait are already recognized but cognitive improvement depends on several factors such as tests used, the time elapsed after LP for re-testing, and the number of punctures. Serial punctures may trigger similar conditions as external lumbar drainage (ELD) to the organism. Objective: This study aimed to identify how serial punctures afect cognition to increase the sensitivity of the test and consequently the accuracy of surgical indication. Methods: Sixty-one patients with INPH underwent baseline memory and executive tests repeatedly following the 2-Step Tap Test protocol (2-STT – two procedures of 30 mL lumbar CSF drainage separated by a 24-h interval). The baseline scores of INPH patients were compared with those of 55 healthy controls, and with intragroup post-puncture scores of the 2-STT. -
Inherited Neuropathies
407 Inherited Neuropathies Vera Fridman, MD1 M. M. Reilly, MD, FRCP, FRCPI2 1 Department of Neurology, Neuromuscular Diagnostic Center, Address for correspondence Vera Fridman, MD, Neuromuscular Massachusetts General Hospital, Boston, Massachusetts Diagnostic Center, Massachusetts General Hospital, Boston, 2 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology Massachusetts, 165 Cambridge St. Boston, MA 02114 and The National Hospital for Neurology and Neurosurgery, Queen (e-mail: [email protected]). Square, London, United Kingdom Semin Neurol 2015;35:407–423. Abstract Hereditary neuropathies (HNs) are among the most common inherited neurologic Keywords disorders and are diverse both clinically and genetically. Recent genetic advances have ► hereditary contributed to a rapid expansion of identifiable causes of HN and have broadened the neuropathy phenotypic spectrum associated with many of the causative mutations. The underlying ► Charcot-Marie-Tooth molecular pathways of disease have also been better delineated, leading to the promise disease for potential treatments. This chapter reviews the clinical and biological aspects of the ► hereditary sensory common causes of HN and addresses the challenges of approaching the diagnostic and motor workup of these conditions in a rapidly evolving genetic landscape. neuropathy ► hereditary sensory and autonomic neuropathy Hereditary neuropathies (HN) are among the most common Select forms of HN also involve cranial nerves and respiratory inherited neurologic diseases, with a prevalence of 1 in 2,500 function. Nevertheless, in the majority of patients with HN individuals.1,2 They encompass a clinically heterogeneous set there is no shortening of life expectancy. of disorders and vary greatly in severity, spanning a spectrum Historically, hereditary neuropathies have been classified from mildly symptomatic forms to those resulting in severe based on the primary site of nerve pathology (myelin vs. -
Ataxic Gait in Essential Tremor: a Disease-Associated Feature?
Freely available online Reviews Ataxic Gait in Essential Tremor: A Disease-Associated Feature? Ashwini K. Rao1* & Elan D. Louis2 1Department of Rehabilitation & Regenerative Medicine (Program in Physical Therapy), G.H. Sergievsky Center, Huntington's Disease Center of Excellence, Center of Excellence in Alzheimer's Disease, Columbia University, New York, NY, USA, 2Department of Neurology and Epidemiology (Chronic Diseases); Chief, Division of Movement Disorders, Co-Director- Center for Neuroepidemiology and Clinical Neurology Research, New Haven, CT, USA Abstract Background: While accumulating evidence suggests that balance and gait impairments are commonly seen in patients with essential tremor (ET), questions remain regarding their prevalence, their relationship with normal aging, whether they are similar to the impairments seen in spinocerebellar ataxias, their functional consequences, and whether some ET patients carry greater susceptibility. Methods: We conducted a literature search (until December 2018) on this topic. Results: We identified 23 articles on gait or balance impairments in ET. The prevalence of balance impairment (missteps on tandem walk test) was seven times higher in ET patients than controls. Gait impairments in ET included reduced speed, increased asymmetry, and impaired dynamic balance. While balance and gait problems worsened with age, ET patients were more impaired than controls, independent of age. The pattern of impairments seen in ET was qualitatively similar to that seen in spinocerebellar ataxias. Balance and gait impairments resulted in greater number of near falls in ET patients. Factors associated with balance and gait impairments in ET included age, presence of tremor in midline structures, and cognitive dysfunction. Discussion: Accumulating evidence suggests that balance and gait impairments are common in ET patients and occur to a greater extent in controls. -
Scienti®C Review Spastic Movement Disorder
Spinal Cord (2000) 38, 389 ± 393 ã 2000 International Medical Society of Paraplegia All rights reserved 1362 ± 4393/00 $15.00 www.nature.com/sc Scienti®c Review Spastic movement disorder V Dietz*,1 1Paracare, Paraplegic Centre of the University Hospital Balgrist, ZuÈrich, Switzerland This review deals with the neuronal mechanisms underlying spastic movement disorder, assessed by electrophysiological means with the aim of ®rst, a better understanding of the underlying pathophysiology and second, the selection of an adequate treatment. For the patient usually one of the ®rst symptoms of a lesion within the central motor system represents the movement disorder, which is most characteristic during locomotion in patients with spasticity. The clinical examination reveals exaggerated tendon tap re¯exes and increased muscle tone typical of the spastic movement disorder. However, today we know that there exists only a weak relationship between the physical signs obtained during the clinical examination in a passive motor condition and the impaired neuronal mechanisms being in operation during an active movement. By the recording and analysis of electrophysiological and biomechanical parameters during a functional movement such as locomotion, the signi®cance of, for example, impaired re¯ex behaviour or pathophysiology of muscle tone and its contribution to the movement disorder can reliably be assessed. Consequently, an adequate treatment should not be restricted to the cosmetic therapy and correction of an isolated clinical parameter but should be based on the pathophysiology and signi®cance of the mechanisms underlying the disorder of functional movement which impairs the patient. Spinal Cord (2000) 38, 389 ± 393 Keywords: spinal cord injury; spasticity; electrophysiological recordings; treatment Introduction Movement disorders are prominent features of impaired strength of electromyographic (EMG) activation of function of the motor systems and are frequently best antagonistic leg muscles as well as intrinsic and passive re¯ected during gait. -
A Review on Parkinson's Disease Treatment
Lee et al. Neuroimmunol Neuroinflammation 2021;8:[Online First] Neuroimmunology DOI: 10.20517/2347-8659.2020.58 and Neuroinflammation Review Open Access A review on Parkinson’s disease treatment Tori K. Lee, Eva L. Yankee Department of Biology, Pacific Union College, Angwin, CA 94508, USA. Correspondence to: Tori K. Lee, Department of Biology, Pacific Union College, 1 Angwin Ave, Angwin, CA 94508, USA. E-mail: [email protected] How to cite this article: Lee TK, Yankee EL. A review on Parkinson’s disease treatment. Neuroimmunol Neuroinflammation 2021;8:[Online First]. http://dx.doi.org/10.20517/2347-8659.2020.58 Received: 1 Oct 2020 First Decision: 1 Dec 2020 Revised: 15 Dec 2020 Accepted: 24 Dec 2020 Available online: 25 Jan 2021 Academic Editors: Athanassios P. Kyritsis, Backil Sung Copy Editor: Monica Wang Production Editor: Jing Yu Abstract Parkinson’s disease (PD) is a neurodegenerative illness and has a common onset between the ages of 55 and 65 years. There is progressive development of both motor and non-motor symptoms, greatly affecting one’s overall quality of life. While there is no cure, various treatments have been developed to help manage the symptoms of PD. Management of PD is a growing field and targets new treatment methods, as well as improvements to old ones. Pharmacological, surgical, and therapeutic treatments have allowed physicians to treat not only the main motor symptoms of PD, but target patient-specific problems as they arise. This review discusses both the established and new possibilities for PD treatment that can provide patient-specific care and mitigate side effects for common treatments. -
Myelopathy—Paresis and Paralysis in Cats
Myelopathy—Paresis and Paralysis in Cats (Disorder of the Spinal Cord Leading to Weakness and Paralysis in Cats) Basics OVERVIEW • “Myelopathy”—any disorder or disease affecting the spinal cord; a myelopathy can cause weakness or partial paralysis (known as “paresis”) or complete loss of voluntary movements (known as “paralysis”) • Paresis or paralysis may affect all four limbs (known as “tetraparesis” or “tetraplegia,” respectively), may affect only the rear legs (known as “paraparesis” or “paraplegia,” respectively), the front and rear leg on the same side (known as “hemiparesis” or “hemiplegia,” respectively) or only one limb (known as “monoparesis” or “monoplegia,” respectively) • Paresis and paralysis also can be caused by disorders of the nerves and/or muscles to the legs (known as “peripheral neuromuscular disorders”) • The spine is composed of multiple bones with disks (intervertebral disks) located in between adjacent bones (vertebrae); the disks act as shock absorbers and allow movement of the spine; the vertebrae are named according to their location—cervical vertebrae are located in the neck and are numbered as cervical vertebrae one through seven or C1–C7; thoracic vertebrae are located from the area of the shoulders to the end of the ribs and are numbered as thoracic vertebrae one through thirteen or T1–T13; lumbar vertebrae start at the end of the ribs and continue to the pelvis and are numbered as lumbar vertebrae one through seven or L1–L7; the remaining vertebrae are the sacral and coccygeal (tail) vertebrae • The brain -
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 -
Depression Prevalence in Postgraduate Students and Its Association with Gait Abnormality
SPECIAL SECTION ON DATA-ENABLED INTELLIGENCE FOR DIGITAL HEALTH Received November 7, 2019, accepted November 21, 2019, date of publication December 2, 2019, date of current version December 16, 2019. Digital Object Identifier 10.1109/ACCESS.2019.2957179 Depression Prevalence in Postgraduate Students and Its Association With Gait Abnormality JING FANG 1, TAO WANG 2, (Student Member, IEEE), CANCHENG LI 2, XIPING HU 1,2, (Member, IEEE), EDITH NGAI 3, (Senior Member, IEEE), BOON-CHONG SEET 4, (Senior Member, IEEE), JUN CHENG 1, YI GUO 5, AND XIN JIANG 6 1Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China 2School of Information Science and Engineering, Lanzhou University, Gansu 730000, China 3Department of Information Technology, Uppsala University, Uppsala 75105, Sweden 4Department of Electrical and Electronic Engineering, Auckland University of Technology, Auckland 1010, New Zealand 5Department of Neurology, Shenzhen People's Hospital, Second Clinical Medical College of Jinan University, First Affiliated Hospital of Southern University of Science and Technology, Shenzhen 518020, China 6Department of Geriatrics, Shenzhen People's Hospital, Second Clinical Medical College of Jinan University, First Affiliated Hospital of Southern University of Science and Technology, Shenzhen 518020, China Corresponding authors: Xiping Hu ([email protected]) and Xin Jiang ([email protected]) This work was supported in part by Shenzhen Technology under Project JSGG20170413171746130, in part by the National Natural Science Foundation of China under Grant 61632014, Grant 61802159, Grant 61210010, Grant 61772508, and Grant 61402211, and in part by the Program of Beijing Municipal Science and Technology Commission under Grant Z171100000117005. ABSTRACT In recent years, an increasing number of university students are found to be at high risk of depression. -
Quantitative MRI for Rapid and User-Independent Monitoring of Intracranial CSF Volume in Hydrocephalus
ORIGINAL RESEARCH ADULT BRAIN Quantitative MRI for Rapid and User-Independent Monitoring of Intracranial CSF Volume in Hydrocephalus X J. Virhammar, X M. Warntjes, X K. Laurell, and X E.-M. Larsson ABSTRACT BACKGROUND AND PURPOSE: Quantitative MR imaging allows segmentation of different tissue types and automatic calculation of intracranial volume, CSF volume, and brain parenchymal fraction. Brain parenchymal fraction is calculated as (intracranial volume Ϫ CSF volume) / intracranial volume. The purpose of this study was to evaluate whether the automatic calculation of intracranial CSF volume or brain parenchymal fraction could be used as an objective method to monitor volume changes in the ventricles. MATERIALS AND METHODS: A lumbar puncture with drainage of 40 mL of CSF was performed in 23 patients under evaluation for idiopathic normal pressure hydrocephalus. Quantitative MR imaging was performed twice within 1 hour before the lumbar puncture and was repeated 30 minutes, 4 hours, and 24 hours afterward. For each time point, the volume of the lateral ventricles was manually segmented and total intracranial CSF volume and brain parenchymal fraction were automatically calculated by using Synthetic MR postprocessing. RESULTS: At 30 minutes after the lumbar puncture, the volume of the lateral ventricles decreased by 5.6 Ϯ 1.9 mL (P Ͻ .0001) and the total intracranial CSF volume decreased by 11.3 Ϯ 5.6 mL (P Ͻ .001), while brain parenchymal fraction increased by 0.78% Ϯ 0.41% (P Ͻ .001). Differences were significant for manual segmentation and brain parenchymal fraction even at 4 hours and 24 hours after the lumbar tap. -
Clinical Decision Making in Neurology
CLINICAL DECISION MAKING IN NEUROLOGY The Neurological Examination The goals of the neurological examination are to detect the presence of a neurologic disease and to determine the location of the lesion within the nervous system. The neurologic examination should be performed in a systematic manner in order to assure that the animal's neurologic status is completely evaluated. The parts of a customary neurologic examination include evaluation of the head (mentation and cranial nerves), gait, limbs (postural reactions and spinal reflexes) and pain/nociception (normal and abnormal pain responses). Gait Evaluation I find gait evaluation the most useful and important part of the neurologic exam. Clinical evaluation of gait usually involves observation of the animal's movements while walking. This is best accomplished by having a handler walk the animal over a flat, non-slippery area. I typically evaluate gait by having a handler walk the animal approximately 100 feet, away and back, as well as circling clockwise and counterclockwise. I have the animal short on the leash and under good control and have the dog typically walk slowly. I may have them walk on and off the curb. Overall, evaluation is made by watching for paresis, ataxia, stride length, lameness, stiffness, spasticity, dysmetria and shuffling or scuffing of limbs or digits. I also note position of head and tail during gait evaluation. Gait analysis is broken down between the axial and appendicular skeleton. The axial vertebral column is made up of many joints and is divided into anatomical segments. The axial portion includes the head, neck, thoracic, lumbar, lumbar/pelvic and tail.