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.

 

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.