Neuroacanthocytosis Syndromes II

Häftad, Engelska, 2010

Av Ruth H. Walker, Shinji Saiki, Adrian Danek

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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.

Produktinformation

Utgivningsdatum2010-10-15
Mått155 x 235 x 18 mm
Vikt493 g
FormatHäftad
SpråkEngelska
Antal sidor295
FörlagSpringer-Verlag Berlin and Heidelberg GmbH & Co. KG
ISBN9783642090820

Tillhör följande kategorier

Medicinsk genetik inom Medicin
Biovetenskap inom Naturvetenskap och teknik
Neurologi och klinisk neurofysiologi inom Medicin

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.