Neurogenetics

Christine Klein, MD, Kishore R. Kumar, MBBS, FRACP, Carolyn M. Sue, MBBS, FRACP, PhD, and Alexander M, Prof Dr Med

What Do I Do Now

Each chapter commences with a brief case study illustrating an important condition in the field of neurogenetics
Particular attention is paid to practical issues regarding how to make a genetic diagnosis and how to counsel the family
evidence-based approach and have also including many conditions in which the causative genes have only recently been identified

Neurogenetics

Christine Klein, MD, Kishore R. Kumar, MBBS, FRACP, Carolyn M. Sue, MBBS, FRACP, PhD, and Alexander M, Prof Dr Med

Description

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.

Neurogenetics

Christine Klein, MD, Kishore R. Kumar, MBBS, FRACP, Carolyn M. Sue, MBBS, FRACP, PhD, and Alexander M, Prof Dr Med

What Do I Do Now

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. 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

Neurogenetics

Christine Klein, MD, Kishore R. Kumar, MBBS, FRACP, Carolyn M. Sue, MBBS, FRACP, PhD, and Alexander M, Prof Dr Med

What Do I Do Now

Author Information

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 Münchau
Head 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

Neurogenetics

Christine Klein, MD, Kishore R. Kumar, MBBS, FRACP, Carolyn M. Sue, MBBS, FRACP, PhD, and Alexander M, Prof Dr Med

What Do I Do Now

Reviews and Awards

"This 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 and Neurosurgery London

"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 Hospital and the University of Toronto, Canada

"[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 Health Sciences Book Review