Neuroacanthocytosis Syndromes - Danek, Adrian; SpringerLink (Online service) (Dordrecht : Springer Netherlands : Imprint: Springer, 2005)
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.
Keywords: Neurosciences; Human genetics; Neurosciences; Human Genetics