Paroxysmal movement disorders : a practical, concise guide / Kapil D. Sethi, Roberto Erro, Kailash P. Bhatia, editors.
Sethi, Kapil D., editor.; Erro, Roberto, editor.; Bhatia, Kailash., editor.
2021
RC376.5
Available Online

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Title Paroxysmal movement disorders : a practical, concise guide / Kapil D. Sethi, Roberto Erro, Kailash P. Bhatia, editors.
ISBN 9783030537210 (electronic bk.)
3030537218 (electronic bk.)
303053720X
9783030537203
DOI https://doi.org/10.1007/978-3-030-53721-0
Publication Details Cham : Springer, 2021.
Language English
Description 1 online resource
Item Number 10.1007/978-3-030-53721-0 doi
Call Number RC376.5
Dewey Decimal Classification 616.8/3
Summary This book addresses the challenges in the differential diagnosis and management of paroxysmal movement disorders. It provides the latest information on the genetics and pathophysiology, neurophysiology and neuroimaging of the core group of disorders in the field, namely the paroxysmal dyskinesias (PxD). Focused and concise, this guide features chapters that discuss other conditions that may be paroxysmal such as, episodic ataxia, startle syndromes and other more complicated groups of paroxysmal movement disorders such as ATP1A3 spectrum disorders. A chapter on secondary (acquired) paroxysmal dyskinesia highlights medical and other disorders that may result in paroxysmal dyskinesia. The book features a particularly nuanced chapter that discusses recent discoveries in the genetic aspects of PxD, relaying that paroxysmal dyskinesias are not channelpathies, but in fact are synaptophies and transportopathies. Additionally, expertly written chapters are supplemented by high quality images, tables, and videos. Paroxysmal Movement Disorders: A Practical Guide is primarily written to educate the reader on how to make a syndromic diagnosis of paroxysmal movement disorders and how to build the diagnostic work-up accordingly, as well as how to manage patients with paroxysmal movement disorders.
Access Note Access limited to authorized users.
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Added Author Sethi, Kapil D., editor.
Erro, Roberto, editor.
Bhatia, Kailash., editor.
Available in Other Form Print version: 9783030537203
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Intro
Contents
Contributors
Chapter 1: Paroxysmal Dyskinesia: Definitions and Clinical Approach
Definitions
Clinical Approach
References
Chapter 2: The Early History of Paroxysmal Dyskinesias
Earliest Descriptions of Paroxysmal Dyskinesia Were Reported as Epilepsy
Earliest Reports That These Types of Conditions Are a Paroxysmal Disorder of Involuntary Movements
Early Reports of Paroxysmal Hypnogenic Dyskinesia
Early Reports of Transient Paroxysmal Dystonia/Torticollis in Infancy
Early Reports of Paroxysmal Ataxias and Tremor
References

Chapter 3: Paroxysmal Kinesigenic Dyskinesia
PRRT2-Related PKD
PKD Associated with Other Genetic Conditions
Conclusions
References
Chapter 4: Paroxysmal Non-kinesigenic Dyskinesia
Introduction
Epidemiology
History
Genetics
Clinical Features
Investigations
Treatment
Conclusion
References
Chapter 5: Paroxysmal Exercise-Induced Dyskinesia
Introduction
SLC2A1 (GLUT1)-Related Paroxysmal Dyskinesia
GCH1-Related Paroxysmal Dyskinesia
ECHS1-Related Paroxysmal Dyskinesia
Pyruvate Dehydrogenase Deficiency
Early-Onset Parkinson's Disease

Conclusions
References
Chapter 6: Acquired Paroxysmal Dyskinesia
Introduction
Clinical Features
Etiology
Autoimmune/Inflammatory
Endocrine/Metabolic
Hypoparathyroidism and Pseudohypoparathyroidism (HP and PHP)
Hyperthyroidism
Disorders of Glucose Metabolism
Autoimmune Disorders
Faciobrachial Dystonic Seizures (FBDS)
Vascular
Trauma
Spinal Cord Lesions
Functional (Psychogenic) Paroxysmal Dyskinesia
Miscellaneous Causes
Investigations
Treatment
References
Chapter 7: Pathophysiology of Paroxysmal Dyskinesia
Introduction
PRRT2

PRRT2 Mice
PNKD
PNKD Mice
GLUT1
Glut1 Mice
Other "Dyskinetic" Genes
SCN8A
KCNMA1
Conclusions
References
Chapter 8: Neurophysiology of Paroxysmal Dyskinesia
Introduction
Neurophysiology in the Diagnosis of Paroxysmal Dyskinesia
Electroencephalography
Electromyography
Other Clinical Neurophysiology Studies
Neurophysiology in the Pathophysiological Study of Paroxysmal Dyskinesia
Magnetoencephalography
Transcranial Magnetic Stimulation
Other Research Neurophysiology Studies
Conclusion
References

Chapter 9: Other Paroxysmal Movement Disorders
Introduction
ADCY5 Mutations
ATP1A3 Spectrum Disorders
SCN8A Mutations
CACNA1A Mutations
SLC16A2 Mutations
References
Chapter 10: Functional Paroxysmal Movement Disorders
Introduction
Phenotypic Characteristics
Associated Signs
Diagnosis and Treatment Approach
References
Chapter 11: Episodic Ataxias
Introduction
EA1
EA2
EA3-EA8
Other Paroxysmal or Episodic Disorders Presenting with Ataxia
References
Index

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