Neuroacanthocytosis Syndromes II
Neuroacanthocytosis refers to a group of rare neurodegenerative disorders, the symptoms of which typically resemble Huntington’s disease. One defining feature is the presence of thorny red blood cells (acanthocytes); however, neither the role of the genet
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Neuroacanthocytosis Syndromes II
Ruth H. Walker • Shinji Saiki • Adrian Danek Editors
Neuroacanthocytosis Syndromes II Preface by Mark Hallett, MD Foreword by Ginger and Glenn Irvine
Publication Sponsor: The Advocacy for Neuroacanthocytosis Patients, London, UK
Ruth H. Walker, MB, ChB, PhD Movement Disorders Clinic Department of Neurology James J. Peters Veterans Affairs Medical Center 130 W. Kingsbridge Road (127) Bronx, NY 10468 and Department of Neurology Mount Sinai School of Medicine One Gustave L. Levy Place New York, NY 10029 USA [email protected]
Shinji Saiki, Dr. Department of Medical Genetics Cambridge Institute for Medical Research Wellcome Trust/MRC Building Addenbrooke’s Hospital Hills Road Cambridge CB2 2XY UK [email protected]
Adrian Danek, Prof. Dr. med. Neurologische Klinik Ludwig-Maximilians-Universität D-81366 München Germany [email protected]
Cover illustration: The cover image consists of an ideogram, known as a kanji in Japanese, superimposed on the representation of a thorny red blood cell (acanthocyte). This kanji was designed by Teiko Dewa, a Japanese artist living in New York City, who has taught mentally- and physically-disabled children in Japan. The kanji incorporates the symbol for “star” rather than “thorn”, which has negative connotations.
ISBN: 978-3-540-71692-1
e-ISBN: 978-3-540-71693-8
Library of Congress Control Number: 2005279044 © 2008 Springer-Verlag Berlin Heidelberg This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer. Violations are liable to prosecution under the German Copyright Law. The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Cover design: WMXDesign GmbH, Heidelberg, Germany Printed on acid-free paper springer.com
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Preface
The differential diagnosis of a neurological patient presenting with chorea is difficult. Huntington disease (HD) is best known and can be readily established with genetic testing should clinical features not be clear. But, if not HD, there are many possibilities. These include Huntington disease-like 1 (HDL1), Huntington disease-like 2 (HDL2), chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), benign hereditary chorea types 1 and 2 (BHC), familial dyskinesia and facial myokymia, pantothenate kinase-associated neurodegeneration (PKAN), neuroferritinopathy, dentatorubral-pallidoluysian atrophy (DRPLA), and spinocerebellar ataxia 17 (SCA17). All these disor
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