Comparison of 3T and 7T MRI for the Visualization of Globus Pallidus Sub
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The Rigid Form of Huntington's Disease U
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.24.1.71 on 1 February 1961. Downloaded from J. Neurol. Neurosurg. Psychiat., 1961, 24, 71. THE RIGID FORM OF HUNTINGTON'S DISEASE BY A. M. G. CAMPBELL, BERYL CORNER, R. M. NORMAN, and H. URICH From the Department ofNeurosurgery and Child Health, Bristol Royal Hospital, and the Burden Neuropathological Laboratory, Frenchay Hospital, Bristol Although the majority of cases of hereditary genetic study of Entres (1925) to belong to a typical chorea correspond accurately to the classical pattern Huntington family. More recent contributions are described by Huntington (1872), a number of those of Rotter (1932), Hempel (1938), and atypical forms have been recorded in children and Lindenberg (1960). Bielschowsky (1922) gave a adults which are characterized by rigidity rather detailed account of the pathological findings in a than by hyperkinesia. Most of these have been patient who was choreic at the age of 6 years and reported in the continental literature and we thought from the age of 9 gradually developed Parkinsonian it was of interest to draw attention to two atypical rigidity. Our own juvenile case is remarkable in juvenile cases occurring in an English family. From Reisner's (1944) review of these juvenile U cases the fact emerges that although the majority A present with typical choreiform movements, two Protected by copyright. atypical variants also occur: one in which the clinical picture is that of progressive extrapyramidal BC rigidity without involuntary movements, the other in which the disease starts as a hyperkinetic syn- drome and gradually changes into a hypokinetic one with progressive rigidity. -
Clinical Manifestation of Juvenile and Pediatric HD Patients: a Retrospective Case Series
brain sciences Article Clinical Manifestation of Juvenile and Pediatric HD Patients: A Retrospective Case Series 1, , 2, 2 1 Jannis Achenbach * y, Charlotte Thiels y, Thomas Lücke and Carsten Saft 1 Department of Neurology, Huntington Centre North Rhine-Westphalia, St. Josef-Hospital Bochum, Ruhr-University Bochum, 44791 Bochum, Germany; [email protected] 2 Department of Neuropaediatrics and Social Paediatrics, University Children’s Hospital, Ruhr-University Bochum, 44791 Bochum, Germany; [email protected] (C.T.); [email protected] (T.L.) * Correspondence: [email protected] These two authors contribute to this paper equally. y Received: 30 April 2020; Accepted: 1 June 2020; Published: 3 June 2020 Abstract: Background: Studies on the clinical manifestation and course of disease in children suffering from Huntington’s disease (HD) are rare. Case reports of juvenile HD (onset 20 years) describe ≤ heterogeneous motoric and non-motoric symptoms, often accompanied with a delay in diagnosis. We aimed to describe this rare group of patients, especially with regard to socio-medical aspects and individual or common treatment strategies. In addition, we differentiated between juvenile and the recently defined pediatric HD population (onset < 18 years). Methods: Out of 2593 individual HD patients treated within the last 25 years in the Huntington Centre, North Rhine-Westphalia (NRW), 32 subjects were analyzed with an early onset younger than 21 years (1.23%, juvenile) and 18 of them younger than 18 years of age (0.69%, pediatric). Results: Beside a high degree of school problems, irritability or aggressive behavior (62.5% of pediatric and 31.2% of juvenile cases), serious problems concerning the social and family background were reported in 25% of the pediatric cohort. -
Restless Legs Syndrome: Keys to Recognition and Treatment
REVIEW JAIME F. AVECILLAS, MD JOSEPH A. GOLISH, MD CARMEN GIANNINI, RN, BSN JOSÉ C. YATACO, MD Department of Pulmonary and Critical Department of Pulmonary and Critical Department of Pulmonary and Critical Care Department of Pulmonary and Critical Care Care Medicine, The Cleveland Clinic Care Medicine and Department of Medicine, The Cleveland Clinic Foundation Medicine, The Cleveland Clinic Foundation Foundation Neurology, The Cleveland Clinic Foundation Restless legs syndrome: Keys to recognition and treatment ■ ABSTRACT ESTLESS LEGS SYNDROME (RLS) is not a R new diagnosis: it was first described com- Restless legs syndrome (RLS) is a common and clinically prehensively 60 years ago.1 However, it con- significant motor disorder increasingly recognized by tinues to be underdiagnosed, underreported, physicians and the general public, yet still and undertreated. Effective therapies for this underdiagnosed, underreported, and undertreated. motor disorder are available, but a high index Effective therapies are available, but a high index of of suspicion is necessary to identify the condi- suspicion is required to make the diagnosis and start tion and start treatment in a timely fashion. treatment quickly. We now have enough data to support Evidence from clinical trials supports the the use of dopaminergic agents, benzodiazepines, use of dopaminergic agents, benzodiazepines, antiepileptics, and opioids in these patients. antiepileptics, and opioids in these patients. The clinician must be familiar with the benefits ■ KEY POINTS and risks of these therapies to be able to provide optimal treatment in patients with RLS. RLS is characterized by paresthesias, usually in the lower extremities. Patients often describe them as “achy” or ■ CLINICAL DEFINITION: “crawling” sensations. -
Neural Plasticity in the Brain During Neuropathic Pain
biomedicines Review Neural Plasticity in the Brain during Neuropathic Pain Myeong Seong Bak 1, Haney Park 1 and Sun Kwang Kim 1,2,* 1 Department of Science in Korean Medicine, Graduate School, Kyung Hee University, Seoul 02447, Korea; [email protected] (M.S.B.); [email protected] (H.P.) 2 Department of Physiology, College of Korean Medicine, Kyung Hee University, Seoul 02447, Korea * Correspondence: [email protected]; Tel.: +82-2-961-0491 Abstract: Neuropathic pain is an intractable chronic pain, caused by damage to the somatosensory nervous system. To date, treatment for neuropathic pain has limited effects. For the development of efficient therapeutic methods, it is essential to fully understand the pathological mechanisms of neuropathic pain. Besides abnormal sensitization in the periphery and spinal cord, accumulating evidence suggests that neural plasticity in the brain is also critical for the development and mainte- nance of this pain. Recent technological advances in the measurement and manipulation of neuronal activity allow us to understand maladaptive plastic changes in the brain during neuropathic pain more precisely and modulate brain activity to reverse pain states at the preclinical and clinical levels. In this review paper, we discuss the current understanding of pathological neural plasticity in the four pain-related brain areas: the primary somatosensory cortex, the anterior cingulate cortex, the periaqueductal gray, and the basal ganglia. We also discuss potential treatments for neuropathic pain based on the modulation of neural plasticity in these brain areas. Keywords: neuropathic pain; neural plasticity; primary somatosensory cortex; anterior cingulate cortex; periaqueductal grey; basal ganglia Citation: Bak, M.S.; Park, H.; Kim, S.K. -
Paroxysmal Hyperkinesia with Diurnal Fluctuations Due to Sepiapterin-Reductase Deficiency Tina Mainka, Jessica Hoffmann, Andrea A
Published Ahead of Print on June 26, 2020 as 10.1212/WNL.0000000000009901 RESIDENT & FELLOW SECTION Teaching Video NeuroImages: Paroxysmal hyperkinesia with diurnal fluctuations due to sepiapterin-reductase deficiency Tina Mainka, MD, Jessica Hoffmann, Andrea A. Kuhn,¨ MD, Saskia Biskup, MD, and Christos Ganos, MD Correspondence Dr. Ganos Neurology 2020;95:1-e3. doi:10.1212/WNL.0000000000009901 ® [email protected] A 42-year-old man, born of consanguineous parents, presented with long-standing severe, MORE ONLINE nonepileptic jerky movements of the upper body, pronounced during the second half of the day Video and improving after sleep (video, A and B). There was a history of neurodevelopmental disorder with axial hypotonia, delayed milestones, intellectual disability, and poor speech Teaching slides production. The combination of a neurodevelopmental syndrome and a movement disorder links.lww.com/WNL/ with diurnal fluctuations1 led to targeted exome sequencing for monoamine metabolism dis- B131 orders. A homozygous nonsense variant in the SPR gene was identified (figure), confirmed by Sanger sequencing (figure). Treatment with levodopa led to marked improvement of abnormal movements (video, C). Acknowledgment The authors thank the patient for his participation and support. Study funding Academic research support from the VolkswagenStiftung (Freigeist Fellowship; C. Ganos). Disclosure T. Mainka, J. Hoffmann, A.A. K¨uhn,S. Biskup, and C. Ganos report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures. From the Department of Neurology (T.M., A.A.K., C.G.), Charit´e University Medicine Berlin; Berlin Institute of Health (T.M.); and Center for Genomics and Transcriptomics (J.H., S.B.), Tubingen,¨ Germany. -
Neural Circuit and Clinical Insights from Intraoperative Recordings During Deep Brain Stimulation Surgery
brain sciences Perspective Neural Circuit and Clinical Insights from Intraoperative Recordings During Deep Brain Stimulation Surgery Anand Tekriwal 1,2,3 , Neema Moin Afshar 2, Juan Santiago-Moreno 3, Fiene Marie Kuijper 4, Drew S. Kern 1,5, Casey H. Halpern 4, Gidon Felsen 2 and John A. Thompson 1,5,* 1 Department of Neurosurgery, University of Colorado School of Medicine, Aurora, CO 80203, USA 2 Department of Physiology and Biophysics, University of Colorado School of Medicine, Aurora, CO 80203, USA 3 Medical Scientist Training Program, University of Colorado School of Medicine, Aurora, CO 80203, USA 4 Department of Neurosurgery, Stanford University School of Medicine, Stanford, CA 94305, USA 5 Department of Neurology, University of Colorado School of Medicine, Aurora, CO 80203, USA * Correspondence: [email protected] Received: 28 June 2019; Accepted: 18 July 2019; Published: 20 July 2019 Abstract: Observations using invasive neural recordings from patient populations undergoing neurosurgical interventions have led to critical breakthroughs in our understanding of human neural circuit function and malfunction. The opportunity to interact with patients during neurophysiological mapping allowed for early insights in functional localization to improve surgical outcomes, but has since expanded into exploring fundamental aspects of human cognition including reward processing, language, the storage and retrieval of memory, decision-making, as well as sensory and motor processing. The increasing use of chronic neuromodulation, via deep brain stimulation, for a spectrum of neurological and psychiatric conditions has in tandem led to increased opportunity for linking theories of cognitive processing and neural circuit function. Our purpose here is to motivate the neuroscience and neurosurgical community to capitalize on the opportunities that this next decade will bring. -
Hyperpolarization of the Subthalamic Nucleus Alleviates Hyperkinetic
www.nature.com/scientificreports OPEN Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders Chun-Hwei Tai1, Ming-Kai Pan 2, Sheng-Hong Tseng3, Tien-Rei Wang1 & Chung-Chin Kuo1,4 ✉ Modulation of subthalamic nucleus (STN) fring patterns with injections of depolarizing currents into the STN is an important advance for the treatment of hypokinetic movement disorders, especially Parkinson’s disease (PD). Chorea, ballism and dystonia are prototypical examples of hyperkinetic movement disorders. In our previous study, normal rats without nigro-striatal lesion were rendered hypokinetic with hyperpolarizing currents injected into the STN. Therefore, modulation of the fring pattern by injection of a hyperpolarizing current into the STN could be an efective treatment for hyperkinetic movement disorders. We investigated the efect of injecting a hyperpolarizing current into the STNs of two diferent types of hyperkinetic animal models and a patient with an otherwise uncontrollable hyperkinetic disorder. The two animal models included levodopa-induced hyperkinetic movement in parkinsonian rats (L-DOPA-induced dyskinesia model) and hyperkinesia induced by an intrastriatal injection of 3-nitropropionic acid (Huntington disease model), covering neurodegeneration- related as well as neurotoxin-induced derangement in the cortico-subcortical re-entrant loops. Delivering hyperpolarizing currents into the STN readily alleviated the hyperkinetic behaviors in the two animal models and in the clinical case, with an evident increase in subthalamic burst discharges in electrophysiological recordings. Application of a hyperpolarizing current into the STN via a Deep brain stimulation (DBS) electrode could be an efective general therapy for a wide spectrum of hyperkinetic movement disorders. Movement disorders may be divided into two broad categories: hypokinetic and hyperkinetic. -
Hemiballismus: /Etiology and Surgical Treatment by Russell Meyers, Donald B
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.13.2.115 on 1 May 1950. Downloaded from J. Neurol. Neurosurg. Psychiat., 1950, 13, 115. HEMIBALLISMUS: /ETIOLOGY AND SURGICAL TREATMENT BY RUSSELL MEYERS, DONALD B. SWEENEY, and JESS T. SCHWIDDE From the Division of Neurosurgery, State University of Iowa, College ofMedicine, Iowa City, Iowa Hemiballismus is a relatively uncommon hyper- 1949; Whittier). A few instances are on record in kinesia characterized by vigorous, extensive, and which the disorder has run an extended chronic rapidly executed, non-patterned, seemingly pur- course (Touche, 1901 ; Marcus and Sjogren, 1938), poseless movements involving one side of the body. while in one case reported by Lea-Plaza and Uiberall The movements are almost unceasing during the (1945) the abnormal movements are said to have waking state and, as with other hyperkinesias con- ceased spontaneously after seven weeks. Hemi- sidered to be of extrapyramidal origin, they cease ballismus has also been known to cease following during sleep. the supervention of a haemorrhagic ictus. Clinical Aspects Terminology.-There appears to be among writers on this subject no agreement regarding the precise Cases are on record (Whittier, 1947) in which the Protected by copyright. abnormal movements have been confined to a single features of the clinical phenomena to which the limb (" monoballismus ") or to both limbs of both term hemiballismus may properly be applied. sides (" biballismus ") (Martin and Alcock, 1934; Various authors have credited Kussmaul and Fischer von Santha, 1932). In a majority of recorded (1911) with introducing the term hemiballismus to instances, however, the face, neck, and trunk as well signify the flinging or flipping character of the limb as the limbs appear to have been involved. -
A Hierarchical Interpretation of the Functional Organization of the Basal Ganglia
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by PubMed Central HYPOTHESIS AND THEORY ARTICLE published: 11 March 2011 SYSTEMS NEUROSCIENCE doi: 10.3389/fnsys.2011.00013 The arbitration–extension hypothesis: a hierarchical interpretation of the functional organization of the basal ganglia Iman Kamali Sarvestani1,2*, Mikael Lindahl1,2, Jeanette Hellgren-Kotaleski1,2,3 and Örjan Ekeberg1,2 1 Department of Computational Biology, School of Computer Science and Communication, Royal Institute of Technology, Stockholm, Sweden 2 Stockholm Brain Institute, Stockholm, Sweden 3 Department of Neuroscience, Karolinska Institute, Stockholm, Sweden Edited by: Based on known anatomy and physiology, we present a hypothesis where the basal ganglia Federico Bermudez-Rattoni, motor loop is hierarchically organized in two main subsystems: the arbitration system and Universidad Nacional Autónoma de México, Mexico the extension system. The arbitration system, comprised of the subthalamic nucleus, globus Reviewed by: pallidus, and pedunculopontine nucleus, serves the role of selecting one out of several candidate Federico Bermudez-Rattoni, actions as they are ascending from various brain stem motor regions and aggregated in the Universidad Nacional Autónoma de centromedian thalamus or descending from the extension system or from the cerebral cortex. México, Mexico This system is an action-input/action-output system whose winner-take-all mechanism finds Jose Bargas, Universidad Nacional Autónoma de México, Mexico the strongest response among several candidates to execute. This decision is communicated *Correspondence: back to the brain stem by facilitating the desired action via cholinergic/glutamatergic projections Iman Kamali Sarvestani, Department and suppressing conflicting alternatives via GABAergic connections. -
Motor Systems Basal Ganglia
Motor systems 409 Basal Ganglia You have just read about the different motor-related cortical areas. Premotor areas are involved in planning, while MI is involved in execution. What you don’t know is that the cortical areas involved in movement control need “help” from other brain circuits in order to smoothly orchestrate motor behaviors. One of these circuits involves a group of structures deep in the brain called the basal ganglia. While their exact motor function is still debated, the basal ganglia clearly regulate movement. Without information from the basal ganglia, the cortex is unable to properly direct motor control, and the deficits seen in Parkinson’s and Huntington’s disease and related movement disorders become apparent. Let’s start with the anatomy of the basal ganglia. The important “players” are identified in the adjacent figure. The caudate and putamen have similar functions, and we will consider them as one in this discussion. Together the caudate and putamen are called the neostriatum or simply striatum. All input to the basal ganglia circuit comes via the striatum. This input comes mainly from motor cortical areas. Notice that the caudate (L. tail) appears twice in many frontal brain sections. This is because the caudate curves around with the lateral ventricle. The head of the caudate is most anterior. It gives rise to a body whose “tail” extends with the ventricle into the temporal lobe (the “ball” at the end of the tail is the amygdala, whose limbic functions you will learn about later). Medial to the putamen is the globus pallidus (GP). -
EXTRAPYRAMIDAL MOVEMENT DISORDERS (GENERAL) Mov1 (1)
EXTRAPYRAMIDAL MOVEMENT DISORDERS (GENERAL) Mov1 (1) Extrapyramidal Movement Disorders (GENERAL) Last updated: July 12, 2019 PATHOPHYSIOLOGY ..................................................................................................................................... 1 CLINICAL FEATURES .................................................................................................................................... 2 DIAGNOSIS ................................................................................................................................................... 3 TREATMENT ................................................................................................................................................. 4 MORPHOLOGIC CORRELATIONS ................................................................................................................... 4 TREMOR ......................................................................................................................................................... 5 ESSENTIAL TREMOR ..................................................................................................................................... 6 ORTHOSTATIC TREMOR ................................................................................................................................ 7 PRIMARY WRITER'S TREMOR ........................................................................................................................ 7 PHYSIOLOGIC TREMOR ................................................................................................................................ -
Understanding the Role of Cholinergic Tone in the Pedunculopontine Tegmental Nucleus
Western University Scholarship@Western Electronic Thesis and Dissertation Repository 7-22-2014 12:00 AM Understanding the role of cholinergic tone in the pedunculopontine tegmental nucleus Kaie Rosborough The University of Western Ontario Supervisor Dr. Vania Prado The University of Western Ontario Graduate Program in Anatomy and Cell Biology A thesis submitted in partial fulfillment of the equirr ements for the degree in Master of Science © Kaie Rosborough 2014 Follow this and additional works at: https://ir.lib.uwo.ca/etd Part of the Behavioral Neurobiology Commons Recommended Citation Rosborough, Kaie, "Understanding the role of cholinergic tone in the pedunculopontine tegmental nucleus" (2014). Electronic Thesis and Dissertation Repository. 2388. https://ir.lib.uwo.ca/etd/2388 This Dissertation/Thesis is brought to you for free and open access by Scholarship@Western. It has been accepted for inclusion in Electronic Thesis and Dissertation Repository by an authorized administrator of Scholarship@Western. For more information, please contact [email protected]. UNDERSTANDING THE ROLE OF CHOLINERGIC TONE IN THE PEDUNCULOPONTINE TEGMENTAL NUCLEUS Thesis format: Monograph Article by Kaie Rosborough Graduate Program in Anatomy and Cell Biology A thesis submitted in partial fulfillment of the requirements for the degree of Masters of Science The School of Graduate and Postdoctoral Studies The University of Western Ontario London, Ontario, Canada © Kaie Rosborough 2014 ! Abstract To better understand the role of cholinergic signaling in specific regions of the brain, several genetically modified mice targeting the vesicular acetylcholine transporter (VAChT) gene have been generated (Prado et al., 2006; Guzman et al., 2011; de Castro et al., 2009). VAChT stores acetylcholine (ACh) in synaptic vesicles, and changes in this transporter expression directly interferes with ACh release.