Neuroacanthocytosis Syndromes (eBook)

Introduction.- 1. Neuroacanthocytosis syndromes: What links red blood cells and neurons; A. Danek. Clinical Context.- 2. The differential diagnosis of neuroacanthocytosis: An overview; F. Tison. 3. Acanthocytes and disorders of lipoprotein metabolism; K. Al-Shali and R.A. Hegele. 4. Levine-Critchley syndrome of neuroacanthocytosis: A clinical review; R.J. Hardie. 5. Chorea-acanthocytosis with the Ehime-deletion mutation; S.-I. Ueno et al. 6. McLeod syndrome: A clinical review; H.H. Jung. 7. Autosomal-dominant chorea-acanthocytosis: Report of a family and neuropathology; R.H. Walker et al. 8. Acanthocytes in pantothenate kinase associated neurodegeneration; T. Klopstock et al. 9. Diagnostic test for neuroacanthocytosis: Quantitative measurement of red blood cell morphology; A. Storch and J. Schwarz. 10. Differential diagnosis of serum creatine kinase elevation; B.G.H. Schoser and T.N. Witt. Organ Involvement.- 11. Pathology of neuroacanthosytosis and of Huntington's disease; A. Martínez et al. 12. Cognitive and neuropsychiatric findings in the McLeod syndrome and in chorea-acanthocytosis; A. Danek et al. 13. Epilepsy in neuroacanthocytosis; H. Meierkord. 14. Sleep features in chorea-acanthocytosis; L. Dolenc-Groselj et al. 15. Neuromuscular findings in eight Italian families with neuroacanthocytosis; M.T. Dotti et al. 16. Cardiac involvement in the neuroacanthocytosis syndromes; S.A. Mohiddin and L. Fananapazir. Basic Science.- 17. Erythrocyte membrane abnormalities in neuroacanthocytosis: Evidence for a neuron-erythrocyte axis?; G.J.C.G.M. Bosman et al. 18. Erythrocyte membrane anion exchange abnormalities in chorea-acanthocytosis: The band 3 network; L. de Franceschi and R. Corrocher. 19. The spectrum of mutations and possible function ofthe CHAC gene; C. Dobson-Stone et al. 20. Immunohematology of the Kell and Kx blood group systems; G. Daniels. 21. C.elegans as a disease model for neuroacanthocytosis; K. Wong and M. Hengartner. 22. The Kell blood group protein, its relation to XK and its function as an endothelin-3-converting enzyme; C.M. Redman et al. 23. Endothelins as basal ganglia transmitters; M. van den Buuse. 24. Substrates for transglutaminase-catalyzed cross-linking: Relevance to pathogenesis of Huntington's disease and chorea-acanthocytosis; M.A.B. Melone and G. Peluso. 25. Huntingon's disease animal models: What lesson can be learned for research on neuroacanthocytosis syndromes?; C.M. Kosinski. 26. Motor deficits as biomarkers in Huntington's disease: Perspectives for neuroacanthocytosis syndromes; R. Reilman. Treatment.- 27. Treatment options in Huntington's disease; M. Dose. 28. Is surgical treatment an option for chorea-acanthocytosis? J. Volkmann. 29. The potential for gene therapy of neurodenerative disorders; A. Andreu and A.D. Miller. Summary.- 30. Research agenda in neuracanthocytosis; A. Danek. Appendix.- A1. Individual sponsors. A2. Abbreviations. A3. Index. A4. Index of contributors.