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Inherited Neurological Disorders

Diagnosis and Case Study

  • Book
  • © 2017

Overview

  • The first book in this field

  • Presents 40 cases of inherited neurological disorders with genetic diagnosis or pathological confirming

  • Provides systemic review about the specific diseases

  • Benefits from both fundamental researches and diagnosis methods

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Table of contents (7 chapters)

Keywords

About this book

This book provides up-to-date information on various inherited neurological disorders, presenting 40 cases of inherited neurological disorders with genetic diagnosis and/or pathological confirming. These disorders include cerebellar ataxia (SCA1, SCA2, SCA3, etc.), epileptic attacks related disorders (MELAS, MERRF, TSC, etc.), motor neuron related disorders (ALS, HSP, CMT, etc.), movement disorders (PD, PKD, DRD, etc.), ion channel diseases (hypokalemic periodic paralysis, normal potassium periodic paralysis), muscle diseases (DMD, FSHD, LSM, etc.), and dementia and psychiatric disorders (HD, CADASIL, CARASIL, etc.).

With the format of case study, one type of diseases is discussed on each chapter, basically consisted of 5 sections. Section 1 focuses on the detailed clinical features, physical examination and hematological examination, while Section 2 addresses questions regarding diagnosis and differential diagnosis. Additional information such as imaging material and genetic/pathological results are provided in Section 3, followed by the final diagnosis in Section 4. Section 5 presents a systemic review for each specific disease. The book will benefit clinicians especially neurologists, medical students, researchers and healthcare professionals facing difficult cases, particularly those involving fundamental research and diagnostic methods.

Editors and Affiliations

  • Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China

    Zhi-Ying Wu

About the editor

Zhi-Ying Wu is a chief physician, professor and tutor of Ph.D. at the Department of Neurology and the Director of the Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hanzhou, China. Her research focus is on screening for causative genes, analyzing genotype-phenotype correlations, and understanding molecular pathogenesis of neurological disorders.

Bibliographic Information

  • Book Title: Inherited Neurological Disorders

  • Book Subtitle: Diagnosis and Case Study

  • Editors: Zhi-Ying Wu

  • DOI: https://doi.org/10.1007/978-981-10-4196-9

  • Publisher: Springer Singapore

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer Nature Singapore Pte Ltd. 2017

  • Hardcover ISBN: 978-981-10-4195-2Published: 31 July 2017

  • Softcover ISBN: 978-981-13-5075-7Published: 12 December 2018

  • eBook ISBN: 978-981-10-4196-9Published: 14 July 2017

  • Edition Number: 1

  • Number of Pages: V, 147

  • Number of Illustrations: 49 b/w illustrations, 56 illustrations in colour

  • Topics: Neurology

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