Spinocerebellar Ataxia Precision Panel Overview Indications
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Rehabilitating Individuals with Spinocerebellar Ataxia: Experiences from Impairment-Based Rehabilitation Through Multidisciplinary Care Approach
Neurology Asia 2020; 25(1) : 75 – 80 Rehabilitating individuals with spinocerebellar ataxia: Experiences from impairment-based rehabilitation through multidisciplinary care approach 1,2Fatimah Ahmedy MBBCh MRehabMed, 1Yuen Woei Neoh MBBS, MRehabMed, 1Lydia Abdul Latiff MBBS MRehabMed 1Department of Rehabilitation Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur; 2Department of Surgery, Faculty of Medicine & Health Sciences, Universiti Malaysia Sabah, Kota Kinabalu, Sabah, Malaysia Abstract Spinocerebellar ataxia (SCA) is a rare neurodegenerative disease with progressive course and poor expected outcomes. Therefore, rehabilitation remains the principal form of management especially in advanced disease. Impairment-based rehabilitation through multidisciplinary care approach has proven benefits for functional improvement in individuals with advancing SCA. This concept is based on comprehensive assessments of individualised impairments and functional limitations while exploring contributing environmental and personal factors affecting the person as a whole. From this assessment, individualised rehabilitation goals can be formulated through a multidisciplinary care approach. Neurologists, rehabilitation physicians, physiotherapists, occupational therapists and speech and language pathologists are key individuals involved in the multidisciplinary care for individuals with SCA rehabilitation. Two cases of individuals at different stages of SCA are presented to highlight the rehabilitation approach in providing focused interventions -
Reframing Psychiatry for Precision Medicine
Reframing Psychiatry for Precision Medicine Elizabeth B Torres 1,2,3* 1 Rutgers University Department of Psychology; [email protected] 2 Rutgers University Center for Cognitive Science (RUCCS) 3 Rutgers University Computer Science, Center for Biomedicine Imaging and Modelling (CBIM) * Correspondence: [email protected]; Tel.: (011) +858-445-8909 (E.B.T) Supplementary Material Sample Psychological criteria that sidelines sensory motor issues in autism: The ADOS-2 manual [1, 2], under the “Guidelines for Selecting a Module” section states (emphasis added): “Note that the ADOS-2 was developed for and standardized using populations of children and adults without significant sensory and motor impairments. Standardized use of any ADOS-2 module presumes that the individual can walk independently and is free of visual or hearing impairments that could potentially interfere with use of the materials or participation in specific tasks.” Sample Psychiatric criteria from the DSM-5 [3] that does not include sensory-motor issues: A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive, see text): 1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions. 2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication. -
Spinocerebellar Ataxia Genetic Testing
Lab Management Guidelines V1.0.2020 Spinocerebellar Ataxia Genetic Testing MOL.TS.311.A v1.0.2020 Introduction Spinocerebellar ataxia (SCA) genetic testing is addressed by this guideline. Procedures addressed The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. Refer to the specific Health Plan's procedure code list for management requirements. Procedures addressed by this Procedure codes guideline ATXN1 gene analysis, evaluation to detect 81178 abnormal (eg,expanded) allele ATXN2 gene analysis, evaluation to detect 81179 abnormal (eg,expanded) allele ATXN3 gene analysis, evaluation to detect 81180 abnormal (eg,expanded) allele ATXN7 gene analysis, evaluation to detect 81181 abnormal (eg,expanded) allele ATXN8 gene analysis, evaluation to detect 81182 abnormal (eg, expanded) alleles ATXN10 gene analysis, evaluation to 81183 detect abnormal (eg, expanded) alleles CACNA1A gene analysis; evaluation to 81184 detect abnormal (eg, expanded) alleles CACNA1A gene analysis; full gene 81185 sequence CACNA1A gene analysis; known familial 81186 variant PPP2R2B gene analysis, evaluation to 81343 detect abnormal (eg, expanded) alleles TBP gene analysis, evaluation to detect 81344 abnormal (eg, expanded) alleles Unlisted molecular pathology procedure 81479 © 2020 eviCore healthcare. All Rights Reserved. 1 of 15 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Lab Management Guidelines V1.0.2020 What is spinocerebellar ataxia Definition Spinocerebrallar ataxias (SCA) are a group of autosomal dominant ataxias that have a range of phenotypes. There are various subtypes of SCA, which are denoted by numbers (e.g. SCA1, SCA3, etc.) Incidence and Prevalence The prevalence of autosomal dominant cerebellar ataxias, as a whole, is 1-5:100,000.1 SCA3 is the most common autosomal dominant form of ataxia. -
Spinocerebellar Ataxia 17 (SCA17) and Huntington’S Disease-Like 4 (HDL4)
Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4). Giovanni Stevanin, Alexis Brice To cite this version: Giovanni Stevanin, Alexis Brice. Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4).. The Cerebellum, Springer, 2008, 7 (2), pp.170-8. 10.1007/s12311-008-0016-1. inserm- 00293796 HAL Id: inserm-00293796 https://www.hal.inserm.fr/inserm-00293796 Submitted on 26 Mar 2009 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Stevanin & Brice, SCA7 and HDL4 1 SPINOCEREBELLAR ATAXIA 17 (SCA17) AND HUNTINGTON’S DISEASE-LIKE 4 (HDL4) GIOVANNI STEVANIN1,2,3 & ALEXIS BRICE1,2,3 1INSERM, U679, 75013 Paris, France; 2Université Pierre et Marie Curie – Paris 6, UMR S679, Institut Fédératif de Recherche en Neurosciences, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France; 3APHP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique, 75013 Paris, France Correspondence: Giovanni Stevanin, PhD, INSERM U679, Groupe Pitié-Salpêtrière, 47 Boulevard de l’Hôpital, 75651 Paris Cedex 13, France. E-mail: [email protected] Running title: SCA7 and HDL4 Stevanin & Brice, SCA7 and HDL4 2 Abstract Spinocerebellar ataxia 17 (SCA17) or Huntington's disease-like-4 is a neurodegenerative disease caused by the expansion above 44 units of a CAG/CAA repeat in the coding region of the TATA box binding protein (TBP) gene leading to an abnormal expansion of a polyglutamine stretch in the corresponding protein. -
ALS and Other Motor Neuron Diseases Can Represent Diagnostic Challenges
Review Article Address correspondence to Dr Ezgi Tiryaki, Hennepin ALS and Other Motor County Medical Center, Department of Neurology, 701 Park Avenue P5-200, Neuron Diseases Minneapolis, MN 55415, [email protected]. Ezgi Tiryaki, MD; Holli A. Horak, MD, FAAN Relationship Disclosure: Dr Tiryaki’s institution receives support from The ALS Association. Dr Horak’s ABSTRACT institution receives a grant from the Centers for Disease Purpose of Review: This review describes the most common motor neuron disease, Control and Prevention. ALS. It discusses the diagnosis and evaluation of ALS and the current understanding of its Unlabeled Use of pathophysiology, including new genetic underpinnings of the disease. This article also Products/Investigational covers other motor neuron diseases, reviews how to distinguish them from ALS, and Use Disclosure: Drs Tiryaki and Horak discuss discusses their pathophysiology. the unlabeled use of various Recent Findings: In this article, the spectrum of cognitive involvement in ALS, new concepts drugs for the symptomatic about protein synthesis pathology in the etiology of ALS, and new genetic associations will be management of ALS. * 2014, American Academy covered. This concept has changed over the past 3 to 4 years with the discovery of new of Neurology. genes and genetic processes that may trigger the disease. As of 2014, two-thirds of familial ALS and 10% of sporadic ALS can be explained by genetics. TAR DNA binding protein 43 kDa (TDP-43), for instance, has been shown to cause frontotemporal dementia as well as some cases of familial ALS, and is associated with frontotemporal dysfunction in ALS. Summary: The anterior horn cells control all voluntary movement: motor activity, res- piratory, speech, and swallowing functions are dependent upon signals from the anterior horn cells. -
The Capacity of Long-Term in Vitro Proliferation of Acute Myeloid
The Capacity of Long-Term in Vitro Proliferation of Acute Myeloid Leukemia Cells Supported Only by Exogenous Cytokines Is Associated with a Patient Subset with Adverse Outcome Annette K. Brenner, Elise Aasebø, Maria Hernandez-Valladares, Frode Selheim, Frode Berven, Ida-Sofie Grønningsæter, Sushma Bartaula-Brevik and Øystein Bruserud Supplementary Material S2 of S31 Table S1. Detailed information about the 68 AML patients included in the study. # of blasts Viability Proliferation Cytokine Viable cells Change in ID Gender Age Etiology FAB Cytogenetics Mutations CD34 Colonies (109/L) (%) 48 h (cpm) secretion (106) 5 weeks phenotype 1 M 42 de novo 241 M2 normal Flt3 pos 31.0 3848 low 0.24 7 yes 2 M 82 MF 12.4 M2 t(9;22) wt pos 81.6 74,686 low 1.43 969 yes 3 F 49 CML/relapse 149 M2 complex n.d. pos 26.2 3472 low 0.08 n.d. no 4 M 33 de novo 62.0 M2 normal wt pos 67.5 6206 low 0.08 6.5 no 5 M 71 relapse 91.0 M4 normal NPM1 pos 63.5 21,331 low 0.17 n.d. yes 6 M 83 de novo 109 M1 n.d. wt pos 19.1 8764 low 1.65 693 no 7 F 77 MDS 26.4 M1 normal wt pos 89.4 53,799 high 3.43 2746 no 8 M 46 de novo 26.9 M1 normal NPM1 n.d. n.d. 3472 low 1.56 n.d. no 9 M 68 MF 50.8 M4 normal D835 pos 69.4 1640 low 0.08 n.d. -
A New Model for X-Linked Tremor/Ataxia
© 2016. Published by The Company of Biologists Ltd | Disease Models & Mechanisms (2016) 9, 553-562 doi:10.1242/dmm.022848 RESEARCH ARTICLE Spontaneous shaker rat mutant – a new model for X-linked tremor/ ataxia Karla P. Figueroa1, Sharan Paul1, Tito Calì2, Raffaele Lopreiato2, Sukanya Karan1, Martina Frizzarin2, Darren Ames3, Ginevra Zanni4, Marisa Brini5, Warunee Dansithong1, Brett Milash3, Daniel R. Scoles1, Ernesto Carafoli6 and Stefan M. Pulst1,* ABSTRACT mode of inheritance. Here, we describe the genetic analysis of the The shaker rat is an X-linked recessive spontaneous model of shaker rat, a model of Purkinje cell (PC) degeneration. This mutant progressive Purkinje cell (PC) degeneration exhibiting a shaking arose spontaneously and was observed in Sprague Dawley (SD) ataxia and wide stance. Generation of Wistar Furth (WF)/Brown outbred stock in 1991 at Saint Louis University, first described by Norwegian (BN) F1 hybrids and genetic mapping of F2 sib-sib La Regina et al. (1992), and the phenotype of whole-body tremor, ‘ ’ offspring using polymorphic markers narrowed the candidate gene ataxia and wide stance designated as shaker . The shaker trait was region to 26 Mbp denoted by the last recombinant genetic marker reported as an X-linked recessive trait. DXRat21 at 133 Mbp to qter (the end of the long arm). In the WF Various animal models of spontaneously occurring mutants that background, the shaker mutation has complete penetrance, results in parallel some aspects of human hereditary ataxia have been a stereotypic phenotype and there is a narrow window for age of reported; for example, weaver, lurcher, stumbler, tottering and disease onset; by contrast, the F2 hybrid phenotype was more varied, teetering mice (Chou et al., 1991; Frankel et al., 1994; Green and with a later age of onset and likely non-penetrance of the mutation. -
Bass – Glaucomatous-Type Field Loss Not Due to Glaucoma
Glaucoma on the Brain! Glaucomatous-Type Yes, we see lots of glaucoma Field Loss Not Due to Not every field that looks like glaucoma is due to glaucoma! Glaucoma If you misdiagnose glaucoma, you could miss other sight-threatening and life-threatening Sherry J. Bass, OD, FAAO disorders SUNY College of Optometry New York, NY Types of Glaucomatous Visual Field Defects Paracentral Defects Nasal Step Defects Arcuate and Bjerrum Defects Altitudinal Defects Peripheral Field Constriction to Tunnel Fields 1 Visual Field Defects in Very Early Glaucoma Paracentral loss Early superior/inferior temporal RNFL and rim loss: short axons Arcuate defects above or below the papillomacular bundle Arcuate field loss in the nasal field close to fixation Superotemporal notch Visual Field Defects in Early Glaucoma Nasal step More widespread RNFL loss and rim loss in the inferior or superior temporal rim tissue : longer axons Loss stops abruptly at the horizontal raphae “Step” pattern 2 Visual Field Defects in Moderate Glaucoma Arcuate scotoma- Bjerrum scotoma Focal notches in the inferior and/or superior rim tissue that reach the edge of the disc Denser field defects Follow an arcuate pattern connected to the blind spot 3 Visual Field Defects in Advanced Glaucoma End-Stage Glaucoma Dense Altitudinal Loss Progressive loss of superior or inferior rim tissue Non-Glaucomatous Etiology of End-Stage Glaucoma Paracentral Field Loss Peripheral constriction Hereditary macular Loss of temporal rim tissue diseases Temporal “islands” Stargardt’s macular due -
Approach to a Patient with Hemiplegia and Monoplegia
CHAPTER Approach to a Patient with Hemiplegia and Monoplegia 27 Sudhir Kumar, Subhash Kaul INTRODUCTION 4. Injury to multiple cervical nerve roots. Monoplegia and hemiplegia are common neurological 5. Functional or psychogenic. symptoms in patients presenting to the emergency department as well as outpatient department. Insidious onset, gradually progressive monoplegia affecting lower limb can be caused by the following Monoplegia refers to weakness of one limb (either arm or conditions: leg) and hemiplegia refers to weakness of one arm and leg on the same side of body (either left or right side). 1. Tumor of the contralateral frontal lobe. There are a variety of underlying causes for monoplegia 2. Tumor of spinal cord at thoracic or lumbar level. and hemiplegia. The causes differ in different age groups. 3. Chronic infection of brain (frontal lobe) or spinal The causes also differ depending on the onset, progression cord (thoracic or lumbar level), such as tuberculous. and duration of weakness. Therefore, one needs to adopt a systematic approach during history taking and 4. Lumbosacral-plexopathy, due to diabetes mellitus. examination in order to arrive at the correct diagnosis. Insidious onset, gradually progressive monoplegia, Appropriate investigations after these would confirm the affecting upper limb, can be caused by one of the following diagnosis. conditions: The aim of this chapter is to systematically look at the 1. Tumor of the contralateral parietal lobe. differential diagnosis of monoplegia and hemiplegia and outline the approach needed to pinpoint the exact 2. Compressive lesion (tumor, large disc, etc) in underlying cause. cervical cord region. 3. Chronic infection of the brain (parietal lobe) or APPROACH TO THE DIAGNOSIS OF MONOPLEGIA spinal cord (cervical region), such as tuberculous. -
Optic Nerve Hypoplasia Plus: a New Way of Looking at Septo-Optic Dysplasia
Optic Nerve Hypoplasia Plus: A New Way of Looking at Septo-Optic Dysplasia Item Type text; Electronic Thesis Authors Mohan, Prithvi Mrinalini Publisher The University of Arizona. Rights Copyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author. Download date 29/09/2021 22:50:06 Item License http://rightsstatements.org/vocab/InC/1.0/ Link to Item http://hdl.handle.net/10150/625105 OPTIC NERVE HYPOPLASIA PLUS: A NEW WAY OF LOOKING AT SEPTO-OPTIC DYSPLASIA By PRITHVI MRINALINI MOHAN ____________________ A Thesis Submitted to The Honors College In Partial Fulfillment of the Bachelors degree With Honors in Physiology THE UNIVERSITY OF ARIZONA M A Y 2 0 1 7 Approved by: ____________________________ Dr. Vinodh Narayanan Center for Rare Childhood Disorders Abstract Septo-optic dysplasia (SOD) is a rare congenital disorder that affects 1/10,000 live births. At its core, SOD is a disorder resulting from improper embryological development of mid-line brain structures. To date, there is no comprehensive understanding of the etiology of SOD. Currently, SOD is diagnosed based on the presence of at least two of the following three factors: (i) optic nerve hypoplasia (ii) improper pituitary gland development and endocrine dysfunction and (iii) mid-line brain defects, including agenesis of the septum pellucidum and/or corpus callosum. A literature review of existing research on the disorder was conducted. The medical history and genetic data of 6 patients diagnosed with SOD were reviewed to find damaging variants. -
Table SI. Genes Upregulated ≥ 2-Fold by MIH 2.4Bl Treatment Affymetrix ID
Table SI. Genes upregulated 2-fold by MIH 2.4Bl treatment Fold UniGene ID Description Affymetrix ID Entrez Gene Change 1558048_x_at 28.84 Hs.551290 231597_x_at 17.02 Hs.720692 238825_at 10.19 93953 Hs.135167 acidic repeat containing (ACRC) 203821_at 9.82 1839 Hs.799 heparin binding EGF like growth factor (HBEGF) 1559509_at 9.41 Hs.656636 202957_at 9.06 3059 Hs.14601 hematopoietic cell-specific Lyn substrate 1 (HCLS1) 202388_at 8.11 5997 Hs.78944 regulator of G-protein signaling 2 (RGS2) 213649_at 7.9 6432 Hs.309090 serine and arginine rich splicing factor 7 (SRSF7) 228262_at 7.83 256714 Hs.127951 MAP7 domain containing 2 (MAP7D2) 38037_at 7.75 1839 Hs.799 heparin binding EGF like growth factor (HBEGF) 224549_x_at 7.6 202672_s_at 7.53 467 Hs.460 activating transcription factor 3 (ATF3) 243581_at 6.94 Hs.659284 239203_at 6.9 286006 Hs.396189 leucine rich single-pass membrane protein 1 (LSMEM1) 210800_at 6.7 1678 translocase of inner mitochondrial membrane 8 homolog A (yeast) (TIMM8A) 238956_at 6.48 1943 Hs.741510 ephrin A2 (EFNA2) 242918_at 6.22 4678 Hs.319334 nuclear autoantigenic sperm protein (NASP) 224254_x_at 6.06 243509_at 6 236832_at 5.89 221442 Hs.374076 adenylate cyclase 10, soluble pseudogene 1 (ADCY10P1) 234562_x_at 5.89 Hs.675414 214093_s_at 5.88 8880 Hs.567380; far upstream element binding protein 1 (FUBP1) Hs.707742 223774_at 5.59 677825 Hs.632377 small nucleolar RNA, H/ACA box 44 (SNORA44) 234723_x_at 5.48 Hs.677287 226419_s_at 5.41 6426 Hs.710026; serine and arginine rich splicing factor 1 (SRSF1) Hs.744140 228967_at 5.37 -
Neuromuscular Disorders Neurology in Practice: Series Editors: Robert A
Neuromuscular Disorders neurology in practice: series editors: robert a. gross, department of neurology, university of rochester medical center, rochester, ny, usa jonathan w. mink, department of neurology, university of rochester medical center,rochester, ny, usa Neuromuscular Disorders edited by Rabi N. Tawil, MD Professor of Neurology University of Rochester Medical Center Rochester, NY, USA Shannon Venance, MD, PhD, FRCPCP Associate Professor of Neurology The University of Western Ontario London, Ontario, Canada A John Wiley & Sons, Ltd., Publication This edition fi rst published 2011, ® 2011 by Blackwell Publishing Ltd Blackwell Publishing was acquired by John Wiley & Sons in February 2007. Blackwell’s publishing program has been merged with Wiley’s global Scientifi c, Technical and Medical business to form Wiley-Blackwell. Registered offi ce: John Wiley & Sons Ltd, The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK Editorial offi ces: 9600 Garsington Road, Oxford, OX4 2DQ, UK The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK 111 River Street, Hoboken, NJ 07030-5774, USA For details of our global editorial offi ces, for customer services and for information about how to apply for permission to reuse the copyright material in this book please see our website at www.wiley.com/wiley-blackwell The right of the author to be identifi ed as the author of this work has been asserted in accordance with the UK Copyright, Designs and Patents Act 1988. All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher.