Neuroacanthocytosis Syndromes II by M. Hallett (English) Hardcover Book

Description: Neuroacanthocytosis Syndromes II by M. Hallett, Ruth H. Walker, Ginger Irvine, Glenn Irvine, Shinji Saiki, Adrian Danek Recent advances in the neurodegenerative conditions known as neuroacanthocytosis have identified many mutations in the causative genes. This book presents the latest research, including in vitro studies identifying potential protein interactions, work on erythrocyte membranes and animal models illuminating the significance of human gene mutations. FORMAT Hardcover LANGUAGE English CONDITION Brand New Publisher Description The latest research regarding the neurodegenerative conditions known as neuroacanthocytosis will be found in this book. Recent advances have identified the range of mutations in the causative genes. In vitro studies have identified potential protein interactions, and work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated and provide the foundation for possible therapeutic interventions. Notes Contains the latest research regarding the neurodegenerative conditions known as neuroacanthocytosis Back Cover Neuroacanthocytosis refers to a group of rare neurodegenerative disorders, the symptoms of which typically resemble Huntingtons disease. One defining feature is the presence of thorny red blood cells (acanthocytes); however, neither the role of the genetic mutations in causing acanthocytosis, nor the connection with the basal ganglia neurodegeneration, is yet understood. At present there is no cure for these disorders and treatment is purely symptomatic. Awareness of neuroacanthocytosis disorders has increased significantly in recent years. There have been a number of important developments in the field since the publication of the first volume, Neuroacanthocytosis Syndromes. This book contains the latest research in this area. Recent advances have identified the range of mutations in the causative genes, shedding light on potential phenotype Table of Contents The Neuroacanthocytosis Syndromes.- Neuroacanthocytosis Syndromes — A Current Overview.- Differential Diagnosis of Chorea.- An Update on the Hardie Neuroacanthocytosis Series.- Update on McLeod Syndrome.- Huntingtons Disease-Like 2.- Neuroacanthocytosis in Japan — Review of the Literature and Cases.- Basic Research - Proteins and Erythrocytes.- The Function of Chorein.- Recent Studies of Kell and XK: Expression Profi les of Mouse Kell and XK mRNA.- Questions of Cell Shape.- Neuroacanthocytosis-Related Changes in Erythrocyte Membrane Organization and Function.- McLeod Syndrome: A Perspective from Japanese Blood Centers.- Animal Models.- A Mouse Model of Chorea-Acanthocytosis.- The Structural Basis of Brain Involvement in Neuroacanthocytosis.- Functional Imaging in Neuroacanthocytosis.- Volumetric Neuroimaging in Neuroacanthocytosis.- Neuropathology of Chorea-Acanthocytosis.- The Neuropathology of McLeod Syndrome.- Cerebral Involvement in McLeod Syndrome: The First Autopsy Revisited.- Clinical Aspects and Therapy.- Psychiatric Morbidity in Neuroacanthocytosis.- Muscular Aspects of Chorea-Acanthocytosis.- Autonomic Dysfunction in Neuroacanthocytosis and Causes of Sudden Death: Analysis of a Case of Chorea-Acanthocytosis with Dysautonomia.- Sleep Disorders in Neuroacanthocytosis.- Neurosurgery for Neuroacanthocytosis.- Multidisciplinary Neurorehabilitation in Chorea-Acanthocytosis: A Case Study.- The Way Forward.- "Virtual Neuroacanthocytosis Institute": A Look Forward. Long Description 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), neurof- ritinopathy, dentatorubral-pallidoluysian atrophy (DRPLA), and spinocerebellar ataxia 17 (SCA17). All these disorders are relatively uncommon, but there are ways of making the diagnosis and the hard part is keeping them in mind. A subset of these choreas is also characterized by the presence of acanthocytes in the blood, and this fact is valuable from a diagnostic point of view, but is also an interesting cli- cal clue in regard to the pathophysiology. ChAc and MLS have many acanthocytes, and HDL2 and PKAN may have acanthocytes. The acanthocytes are a reminder that the manifestations of these disorders are broad and include a range of neu- logic symptoms and systemic abnormalities. Since there is only little research on these entities, it is valuable to make a periodic synthesis of the state of the art, to draw peoples attention to the area, and to stimulate further research. A first book on the neuroacanthocytosis syndromes came from the first international conference in 2002. Feature Contains the latest research regarding the neurodegenerative conditions known as neuroacanthocytosis Details ISBN3540716920 Short Title NEUROACANTHOCYTOSIS SYNDROMES Language English ISBN-10 3540716920 ISBN-13 9783540716921 Media Book Format Hardcover Imprint Springer-Verlag Berlin and Heidelberg GmbH & Co. K Place of Publication Berlin Country of Publication Germany DEWEY 610 Edited by Adrian Danek Pages 295 Edition 2008th Author Adrian Danek Publisher Springer-Verlag Berlin and Heidelberg GmbH & Co. KG Edition Description 2008 ed. Year 2007 Publication Date 2007-12-18 Alternative 9783642090820 Audience Professional & Vocational Illustrations XXVI, 295 p. We've got this At The Nile, if you're looking for it, we've got it. With fast shipping, low prices, friendly service and well over a million items - you're bound to find what you want, at a price you'll love! TheNile_Item_ID:96274857;

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