ISBN : 9780199383894

Christine Klein; Carolyn M. Sue; Alexander Munchau; Kishore R. Kumar
208 Pages
141 x 215 mm
Pub date
Oct 2014
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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.


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
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

About the author: 

Doctor 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

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