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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 Aims To some, the field of neurogenetics appears perplexing and indecipherable. In this volume, we will address this issue by providing clinicians with a framework for dealing with these disorders. This book is not intended to be an in-depth, comprehensive review of all neurogenetic conditions from 'A to Z'. Instead, we will provide a concise discussion using case studies to illustrate the most important and topical neurogenetic disorders. This case-based approach will make the book easy to reference, clinically relevant, approachable, and, we feel, more interesting. Scope The contribution of genetics to many neurological diseases is becoming increasingly apparent, and so it is imperative to stay up-to-date with these conditions. The 31 chapters in this volume cover a wide range of inherited conditions including forms of dystonia, Parkinson disease, spastic paraplegias, mitochondrial diseases, myopathies, neuropathies, and much more. Particular attention is paid to practical issues regarding how to make a genetic diagnosis and how to counsel the family. We will also address some contemporary issues in neurogenetics, such as the impact of direct-to-consumer genetic testing. General Approach In keeping with the WDIDN series, each chapter commences with a brief case study, which will be used as an example of an important condition in neurogenetics. The discussion will then be centered on the case, with a focus on crucial issues regarding the clinical assessment, investigations and management of these conditions. Key clinical points will be listed at the end of the chapter, along with a list of suggested further reading. All case studies in this book are based on real patients seen by the authors or their colleagues. 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....
