Dystonia

1st Edition, Volume 169 - July 21, 2023
Editors: Hyder Jinnah, Kailash Bhatia, Alberto Albanese
Language: English
Hardback ISBN:
9 7 8 - 0 - 3 2 3 - 9 9 0 2 6 - 4
eBook ISBN:
9 7 8 - 0 - 3 2 3 - 9 9 0 2 7 - 1

Dystonia, Volume 169, the latest release in the International Review of Neurobiology serial, highlights new advances in the field with this new volume presenting interesting c… Read more

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Dystonia, Volume 169, the latest release in the International Review of Neurobiology serial, highlights new advances in the field with this new volume presenting interesting chapters on topics including Clinical Features and the Science of Classification, What Can Epidemiological Studies Tell us About the Neurobiology of Dystonia, Dystonia Genes and Their Biological Pathways, Functional Anatomy of Dystonia, Physiology of Dystonia: Human Studies, Physiology of Dystonia: Animal Studies, Experimental Pharmacology: Targeting Neurotransmitters, Experimental Pharmacology: Targeting Metabolic Pathways, Adult-Onset Focal Dystonias: One Biology or Many?, Early-Onset Inherited vs Late-Onset Idiopathic Dystonias: Same or Different Biological Mechanisms?, and much more.

Cover Image
Title page
Table of Contents
International Review Of Neurobiology: Dystonia
International Review Of Neurobiology
Copyright
Contributors
Chapter One: Clinical features of dystonia and the science of classification
Abstract
1 Early observations
2 Phenomenology
3 Motor features
4 Diagnosis
5 Classification
6 Current status and beyond
References
Chapter Two: What can epidemiological studies teach on the pathophysiology of adult-onset isolated dystonia
Abstract
1 Introduction
2 Studies of birth sex in AOID: Suggestions for pathophysiology
3 How does age affect phenotype and natural history of AOID
4 Extra-genetic risk factors and mechanisms of AOID
5 Clinical and epidemiological studies of non-motor symptoms in AOID: Implications for pathophysiology
6 Brain-wide mechanisms and network dysfunction: Supporting evidence from epidemiologic data
7 Form-specific mechanisms: Supporting evidence from epidemiologic data
8 Where to go next investigating risk- and course-modifying factors of dystonia Conclusive remarks
References
Chapter Three: Dystonia genes and their biological pathways
Abstract
1 Introduction
2 Concluding remarks and future perspectives
References
Chapter Four: The functional anatomy of dystonia: Recent developments
Abstract
1 Introduction
2 Neuroimaging in idiopathic dystonia
3 Lesion studies
4 Animal studies in dystonia
5 Pathways of dystonia
6 Future directions
7 Conclusions
Acknowledgements
References
Chapter Five: Physiology of dystonia: Human studies
Abstract
1 Introduction
2 Inhibition
3 Plasticity
4 Limitations of inhibition and plasticity hypothesis
5 Peripheral contributions and disrupted sensorimotor integration
6 Oscillations in dystonia
7 Conclusions
References
Chapter Six: Physiology of Dystonia: Animal Studies
Abstract
1 Introduction
2 Genetic mouse models with mutations in dystonia-associated genes that are affected in human patients
3 Spontaneous genetic models with dystonic movements
4 Neural circuit manipulations causing dystonia
5 Pharmacologically-induced dystonia models
6 Other models of induced dystonia
7 Conclusions
References
Chapter Seven: Advances in targeting neurotransmitter systems in dystonia
Abstract
1 Introduction
2 Physiology of the principal brain neurotransmitters
3 Neurotransmitter-targeting pharmacological therapies
4 New evolving genetic therapies targeting neurotransmitter systems
5 Discussion
Acknowledgements
References
Chapter Eight: Experimental pharmacology: Targeting metabolic pathways
Abstract
1 Introduction
2 Genetic-metabolic conditions causing dystonia with available disease-specific treatment
3 Trace element metabolism disorders and NBIA disorders
4 Manganese transport disorders
5 Aceruloplasminemia
6 PKAN
7 Energetic metabolism alterations
8 Lysosomal disorders
9 Neurotransmitter defects
10 Channelopathies and synaptopathies
11 Conclusive remarks
References
Chapter Nine: Adult-onset focal dystonias: To lump or split
Abstract
1 Introduction
2 Lumping
3 Splitting
4 Resolving the paradox
5 Conclusions and future prospects
References
Chapter Ten: Early-onset inherited dystonias versus late-onset idiopathic dystonias: Same or different biological mechanisms
Abstract
1 Introduction
2 Epidemiology, genetics and age at onset of dystonias
3 Age-related modifiers of genetic dystonias
4 Converging biochemical and physiologic abnormalities
5 Critical periods of vulnerability for the sensorimotor system: Does it apply to dystonia
6 A possible common framework: The double-hit hypothesis
Disclosures
References
Chapter Eleven: Dystonia and Parkinson’s disease: Do they have a shared biology
Abstract
1 Introduction
2 Pathophysiological considerations—Convergence and divergence
3 Dystonia and Parkinson’s disease
4 Dystonia and parkinsonism—Beyond PD
5 Conclusion and future directions—One pathway or many
References
Chapter Twelve: Dystonia and tremor: Do they have a shared biology
Abstract
1 Introduction
2 Evidence in favor of shared biology
3 Evidence against a shared biology
Conclusion and future perspectives
References
Chapter Thirteen: How does botulinum toxin really work
Abstract
1 Background
2 What is the evidence for a central effect
3 Neurophysiological evidence of BoNT effects on brainstem excitability in humans
4 Neurophysiological evidence of BoNT effects on the sensory system in humans
5 Neuroimaging evidence of central effects of BoNT in humans
6 Conclusions
References
Chapter Fourteen: What have we learned about the biology of dystonia from deep brain stimulation
Abstract
References

Hyder Jinnah

Dr. Hyder A Jinnah, MD, PhD, is a Professor in Departments of Neurology, Pediatrics, & Human Genetics, Emory University School of Medicine. His research group is interested in the biological basis of behavior, and translational research relating to treatment. He focus mostly on disorders of humans and animals that affect abilities to control movement, with a special interest in genetic causes. He is currently working on translational studies for human dystonia, as well as scientific studies of several neurogenic disorders including Lesch-Nyhan-Nyhan disease, dopa-responsive dystonia, and dystonia caused by defects in TOR1A.

Affiliations and expertise

Professor, Department of Neurology, Pediatrics, and Human Genetics, Emory University School of Medicine, GA, USA

Kailash Bhatia

Kailash Bhatia is a professor of clinical neurology in the Sobell Department of Movement Neuroscience at the Institute of Neurology, UCL, Queen Square, London and an honorary consultant neurologist at the affiliated National Hospital for Neurology, Queen Square. Kailash obtained his basic medical degree and neurology training in Mumbai, India and further training in neurogenetics and movement disorders with the late Professors Anita Harding and David Marsden at the Institute of Neurology, London. In 2007 he was appointed senior lecturer and honorary consultant neurologist, and in 2002 was promoted to professor of clinical neurology. Kailash is a fellow of the Royal College of Physicians and corresponding fellow of the American Academy of Neurology. Professor Bhatia has over 500 publications, including 384 peer-reviewed papers. Kailash has just published “Marsden’s book of Movement disorders”, a comprehensive piece of work which has been highly acclaimed. He is the current Associate Editor of the Movement Disorders Journal. He is a grant reviewer for Telethon, Inserm France, UK PD society and a medical advisor to the UK Dystonia society and on the scientific board of the Bachman Struass trust. He is the current chairman of the Movement Disorders subcommittee of the European Neurological Society (ENS), and serves on various committees of the International Movement Disorders Society.

Affiliations and expertise

Professor of Clinical Neurology, Sobell Department of Movement Neuroscience, Institute of Neurology, UCL, Queen Square, London and Honorary Consultant Neurologist, National Hospital for Neurology, Queen Square, UK

Alberto Albanese

Mr Alberto Albanese is an accredited Cardiac Surgeon, currently works as a Consultant Cardiac Surgeon for both the NHS at the Essex Cardiothoracic Centre and in the private sector, including the prestigious Harley Street Clinic, in central London, which offers a world-leading acute care. Alberto originally trained as heart surgeon in Italy and then moved to the United Kingdom, where, after more training and practice, has been appointed as a Consultant. During his training he has done dedicated fellowships in world renowned units like Harefield Hospital, St. George’s Hospital and the new Barts Heart Centre, which have given him a large experience in all aspects of cardiac surgery. Alberto has performed several hundreds open heart operations with excellent results. He is extremely driven and motivated, and totally dedicated to his job and to his patients. His patients have a very high level of satisfaction. His large working experience in both countries UK and Italy, all the national and international meetings and conferences attended, often as speaker, his publications in peer reviewed journals make Alberto a known surgeon with an international reputation. Alberto currently works for the NHS at the Essex Cardiothoracic Centre. He also works in the private sector in central London and Essex. He likes to spend a good amount of time visiting other Cardiac units, for Multi Disciplinary Meetings with Cardiologists, to discuss complex patients or difficult clinical scenarios and to review patients who need attention and assiduous care.

Affiliations and expertise

Consultant Cardiac Surgeon, NHS, Essex Cardiothoracic Centre and Harley Street Clinic, London, UK

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Hyder Jinnah

Kailash Bhatia

Alberto Albanese