Neuroacanthocytosis Syndromes II

by Walker, Ruth H.; Saiki, Shinji; Danek, Adrian; Hallett, Mark; Irvine, Ginger

• ISBN13: 9783540716921
• ISBN10: 3540716920
• Edition: 1st
• Format: Hardcover
• Copyright: 2008-01-03
• Publisher: Springer Verlag

Summary

This book contains the latest research regarding the neurodegenerative conditions known as neuroacanthocytosis. Recent advances have identified the range of mutations in the causative genes, shedding light on potential phenotype-genotype correlations. In vitro studies have identified potential protein interactions, which have important implications for pathophysiology, and work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated which greatly facilitate understanding the significance of gene mutations in humans, and provide the foundation for possible therapeutic interventions.

Table of Contents

The Neuroacanthocytosis Syndromes	p. 1
Neuroacanthocytosis Syndromes - A Current Overview	p. 3
Differential Diagnosis of Chorea	p. 21
An Update on the Hardie Neuroacanthocytosis Series	p. 43
Update on McLeod Syndrome	p. 53
Huntington's Disease-Like 2	p. 59
Neuroacanthocytosis in Japan - Review of the Literature and Cases	p. 75
Basic Research - Proteins and Erythrocytes	p. 85
The Function of Chorein	p. 87
Recent Studies of Kell and XK: Expression Profiles of Mouse Kell and XK mRNA	p. 107
Questions of Cell Shape	p. 115
Neuroacanthocytosis-Related Changes in Erythrocyte Membrane Organization and Function	p. 133
McLeod Syndrome: A Perspective from Japanese Blood Centers	p. 143
Animal Models	p. 151
A Mouse Model of Chorea-Acanthocytosis	p. 153
The Structural Basis of Brain Involvement in Neuroacanthocytosis	p. 161
Functional Imaging in Neuroacanthocytosis	p. 163
Volumetric Neuroimaging in Neuroacanthocytosis	p. 175
Neuropathology of Chorea-Acanthocytosis	p. 187
The Neuropathology of McLeod Syndrome	p. 197
Cerebral Involvement in McLeod Syndrome: The First Autopsy Revisited	p. 205
Clinical Aspects and Therapy	p. 217
Psychiatric Morbidity in Neuroacanthocytosis	p. 219
Muscular Aspects of Chorea-Acanthocytosis	p. 225
Autonomic Dysfunction in Neuroacanthocytosis and Causes of Sudden Death: Analysis of a Case of Chorea-Acanthocytosis with Dysautonomia	p. 239
Sleep Disorders in Neuroacanthocytosis	p. 249
Neurosurgery for Neuroacanthocytosis	p. 255
Multidisciplinary Neurorehabilitation in Chorea-Acanthocytosis: A Case Study	p. 271
The Way Forward	p. 285
"Virtual Neuroacanthocytosis Institute": A Look Forward	p. 287
Index	p. 293
Table of Contents provided by Blackwell. All Rights Reserved.