In this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions. The 31 chapters of this book cover a broad range of neurogenetic disorders, highlighting key issues with regards to the clinical assessment, diagnosis and management.
In this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions. The 31 chapters of this book cover a broad range of neurogenetic disorders, highlighting key issues with regards to the clinical assessment, diagnosis and management.
Doctor Kishore R. Kumar Consultant Neurologist Department of Neurogenetics Kolling Institute of Medical Research and Royal North Shore Hospital University of Sydney Australia Professor Carolyn M. Sue Head of Department Department of Neurogenetics Kolling Institute of Medical Research and Royal North Shore Hospital University of Sydney Australia Professor Alexander Münchau Head of Department Department of Paediatric and Adult Movement Disorders and Neuropsychiatry Institute of Neurogenetics University of Lübeck Germany Professor Christine Klein Director Institute of Neurogenetics University of Lübeck Germany
Inhaltsangabe
* 1. Early-onset dystonia * 2. DYT5 dystonia (dopa-responsive dystonia) * 3. Myoclonus dystonia * 4. Paroxysmal dyskinesia * 5. Huntington disease * 6. Dominant Parkinson disease * 7. Recessive Parkinson disease * 8. Gaucher disease and Parkinson disease * 9. Spinocerebellar ataxia type 2 * 10. Spinocerebellar ataxia type 17 * 11. Sialidosis * 12. Freidreich ataxia * 13. MELAS syndrome * 14. MERRF * 15. POLG-related mitochondrial disease * 16. MNGIE syndrome * 17. Leber hereditary optic neuropathy * 18. Charcot-Marie-Tooth disease type 1 * 19. Hereditary neuropathy with liability to pressure palsy * 20. Neurofibromatosis type 1 * 21. The myotonic dystrophies * 22. The dystrophinopathies * 23. Fascioscapulohumeral dystrophy * 24. Inclusion body myopathy with Paget disease of bone and frontotemporal dementia * 25. Hereditary spastic paraplegia * 26. Inherited prion diseases * 27. Frontotemporal dementia-amyotrophic lateral sclerosis syndrome * 28. Neurodegeneration with brain iron accumulation * Other issues that may arise in patients with neurogenetic conditions * 29. Coincidental occurrence of two monogenic disorders_Christine Klein * 30. Direct-to-consumer genetic testing_Christine Klein * 31. Incidental findings in genetic testing_Christine Klein
