Neuroacanthocytosis Syndromes II

Description

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 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 phenotype­genotype correlations. Studies of the proteins affected in these disorders have resulted in increased understanding of their functions and distribution. In vitro studies have identified potential protein interactions, which have important implications for pathophysiology. Work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated which will greatly facilitate understanding the role of gene mutations in humans, and provide the foundation for possible therapeutic interventions. In addition, advances in other neurodegenerative disorders, such as Huntington’s and Parkinson’s diseases, have implications for neuroacanthocytosis. Front Matter....Pages i-xxvi Neuroacanthocytosis Syndromes — A Current Overview....Pages 3-20 Differential Diagnosis of Chorea....Pages 21-42 An Update on the Hardie Neuroacanthocytosis Series....Pages 43-51 Update on McLeod Syndrome....Pages 53-58 Huntington’s Disease-Like 2....Pages 59-73 Neuroacanthocytosis in Japan — Review of the Literature and Cases....Pages 75-84 The Function of Chorein....Pages 87-105 Recent Studies of Kell and XK: Expression Profi les of Mouse Kell and XK mRNA....Pages 107-114 Questions of Cell Shape....Pages 115-132 Neuroacanthocytosis-Related Changes in Erythrocyte Membrane Organization and Function....Pages 133-142 McLeod Syndrome: A Perspective from Japanese Blood Centers....Pages 143-150 A Mouse Model of Chorea-Acanthocytosis....Pages 153-159 Functional Imaging in Neuroacanthocytosis....Pages 163-173 Volumetric Neuroimaging in Neuroacanthocytosis....Pages 175-185 Neuropathology of Chorea-Acanthocytosis....Pages 187-195 The Neuropathology of McLeod Syndrome....Pages 197-203 Cerebral Involvement in McLeod Syndrome: The First Autopsy Revisited....Pages 205-215 Psychiatric Morbidity in Neuroacanthocytosis....Pages 219-223 Muscular Aspects of Chorea-Acanthocytosis....Pages 225-237 Autonomic Dysfunction in Neuroacanthocytosis and Causes of Sudden Death: Analysis of a Case of Chorea-Acanthocytosis with Dysautonomia....Pages 239-248 Sleep Disorders in Neuroacanthocytosis....Pages 249-253 Neurosurgery for Neuroacanthocytosis....Pages 255-269 Multidisciplinary Neurorehabilitation in Chorea-Acanthocytosis: A Case Study....Pages 271-284 “Virtual Neuroacanthocytosis Institute”: A Look Forward....Pages 287-292 Back Matter....Pages 293-295