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OverviewFull Product DetailsAuthor: Christine Klein, MD , Carolyn M. Sue, MBBS, FRACP, PhD , Alexander Munchau , Kishore R. Kumar, MBBS, FRACPPublisher: Oxford University Press Inc Imprint: Oxford University Press Inc Dimensions: Width: 14.10cm , Height: 1.00cm , Length: 21.50cm Weight: 0.246kg ISBN: 9780199383894ISBN 10: 0199383898 Pages: 208 Publication Date: 11 December 2014 Audience: Professional and scholarly , Professional & Vocational Format: Paperback Publisher's Status: Active Availability: Manufactured on demand  We will order this item for you from a manufactured on demand supplier. Table of Contents1. 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 KleinReviewsThis really is a brilliant book which I strongly recommend. Neurogenetics can be daunting for clinicians, but the authors have produced a highly readable, up-to-date and authoritative guide. Each chapter begins with a description of an actual clinical case, and moves on to discussion of differential diagnosis and whether, when and how to proceed with genetic testing. A must for all neurologists! --Niall Quinn, MA, MD, FRCP, FAAN, FANA, Emeritus, Professor of Clinical Neurology, UCL Institute of Neurology, and Honorary Consultant Neurologist, National Hospital for Neurology andNeurosurgeryLondon The field of neurogenetics seems to be advancing at light speed. Genetic causes of well-described disorders as well as newly recognized syndromes are being discovered weekly. The clinician is regularly faced with the question 'What do I do now?' with little idea of where to turn. Here, [the authors] provide a case-based, easily-digested, yet remarkably thorough and authoritative approach to lead the overwhelmed clinician out of the wilderness. --Anthony E. Lang OC, MD, FRCPC, FAAN, FRSC, FCAHS, Director of the Edmond J Safra Program in Parkinson's disease at Toronto Western Hospitaland the University of Toronto, Canada 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. Doody's Notes Author InformationDoctor 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 Munchau Head of Department Department of Paediatric and Adult Movement Disorders and Neuropsychiatry Institute of Neurogenetics University of Lubeck Germany Professor Christine Klein Director Institute of Neurogenetics University of Lubeck Germany Tab Content 6Author Website:Countries AvailableAll regions |
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