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Zusatztext This is a pocket-sized consultation resource on the most common neurogenetics disorders encountered in clinical practice. It is a brilliant, well-thought-out book that presents useful clinical information in a straightforward manner... This is an essential companion for clinicians involved in the diagnosis of neurogenetics disorders. It is a unique contribution to the field - there is no comparable publication. Informationen zum Autor Doctor Kishore R. Kumar Consultant Neurologist Department of Neurogenetics Kolling Institute of Medical Research and Royal North Shore Hospital University of SydneyAustralia 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 MünchauHead 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 Klappentext 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. Zusammenfassung 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. Inhaltsverzeichnis 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 ...
