Description
AimsTo 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.ScopeThe 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 ApproachIn 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.
Table of Contents
1. Early-onset dystonia2. DYT5 dystonia (dopa-responsive dystonia)3. Myoclonus dystonia4. Paroxysmal dyskinesia5. Huntington disease6. Dominant Parkinson disease7. Recessive Parkinson disease8. Gaucher disease and Parkinson disease9. Spinocerebellar ataxia type 210. Spinocerebellar ataxia type 1711. Sialidosis12. Freidreich ataxia13. MELAS syndrome14. MERRF15. POLG-related mitochondrial disease16. MNGIE syndrome17. Leber hereditary optic neuropathy18. Charcot-Marie-Tooth disease type 119. Hereditary neuropathy with liability to pressure palsy20. Neurofibromatosis type 121. The myotonic dystrophies22. The dystrophinopathies23. Fascioscapulohumeral dystrophy24. Inclusion body myopathy with Paget disease of bone and frontotemporal dementia25. Hereditary spastic paraplegia26. Inherited prion diseases27. Frontotemporal dementia-amyotrophic lateral sclerosis syndrome28. Neurodegeneration with brain iron accumulationOther issues that may arise in patients with neurogenetic conditions29. Coincidental occurrence of two monogenic disorders_Christine Klein30. Direct-to-consumer genetic testing_Christine Klein31. Incidental findings in genetic testing_Christine Klein
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