Neuroacanthocytosis Syndromes

Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroug...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
Άλλοι συγγραφείς: Danek, Adrian (Επιμελητής έκδοσης)
Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
Γλώσσα:English
Έκδοση: Dordrecht : Springer Netherlands, 2005.
Θέματα:
Διαθέσιμο Online:Full Text via HEAL-Link
Πίνακας περιεχομένων:
  • Neuroacanthocytosis Syndromes: What Links Red Blood Cells and Neurons?
  • Clinical Context
  • The Differential Diagnosis of Neuroacanthocytosis: An Overview
  • Acanthocytes and Disorders of Lipoprotein Metabolism
  • Levine-Critchley Syndrome of Neuroacanthocytosis: A Clinical Review
  • Chorea-Acanthocytosis with the Ehime-Deletion Mutation
  • McLeod Syndrome: A Clinical Review
  • Autosomal-Dominant Chorea-Acanthocytosis: Report of a Family and Neuropathology
  • Acanthocytes in Pantothenate Kinase Associated Neurodegeneration
  • Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphology
  • Differential Diagnosis of Serum Creatine Kinase Elevation
  • Organ Involvement
  • Pathology of Neuroacanthocytosis and of Huntington’s Disease
  • Cognitive and Neuropsychiatric Findings in McLeod Syndrome and in Chorea-Acanthocytosis
  • Epilepsy in Neuroacanthocytosis
  • Sleep Features in Chorea-Acanthocytosis
  • Neuromuscular Findings in Eight Italian Families with Neuroacanthocytosis
  • Cardiac Involvement in the Neuroacanthocytosis Syndromes
  • Basic Science
  • Erythrocyte Membrane Abnormalities in Neuroacanthocytosis: Evidence for a Neuron-Erythrocyte Axis?
  • Erythrocyte Membrane Anion Exchange Abnormalities in Chorea-Acanthocytosis: the Band 3 Network
  • The Spectrum of Mutations and Possible Function of the CHAC Gene
  • Immunohematology of the Kell and KX Blood Group Systems
  • C. Elegans as a Disease Model for Neuroacanthocytosis
  • The Kell Blood Group Protein, its Relation to XK and its Function as an Endothelin-3-Converting Enzyme
  • Endothelins as Basal Ganglia Transmitters
  • Substrates for Transglutaminase-Catalyzed Cross-Linking: Relevance to Pathogenesis of Huntington’s Disease and Chorea-Acanthocytosis
  • Huntington’s Disease Animal Models: What Lessons Can Be Learned for Research on Neuroacanthocytosis Syndromes?
  • Motor Deficits as Biomarkers in Huntington’s Disease: Perspectives for Neuroacanthocytosis Syndromes
  • Treatment
  • Treatment Options in Huntington’s Disease
  • Is Surgical Treatment an Option for Chorea-Acanthocytosis?
  • The Potential for Gene Therapy of Neurodegenerative Disorders
  • Summary
  • Research Agenda in Neuroacanthocytosis.