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  • Book
    Kapil D. Sethi, Roberto Erro, Kailash P. Bhatia, editors.
    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.

    Contents:
    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
    Digital Access Springer 2021