Neurogenetics

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. 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 Notes1. 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