Full Description
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.
Contents
The Neuroacanthocytosis Syndromes.- Neuroacanthocytosis Syndromes — A Current Overview.- Differential Diagnosis of Chorea.- An Update on the Hardie Neuroacanthocytosis Series.- Update on McLeod Syndrome.- Huntington's 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.