Inherited Neurological Disorders

Diagnosis and Case Study

  • Zhi-Ying Wu

Table of contents

  1. Front Matter
    Pages i-v
  2. Yi Dong, Sheng Chen, Zhi-Jun Liu, Cong Lu, Shi-Rui Gan
    Pages 1-33
  3. Qing-Qing Tao, Hong-Fu Li, Sheng Chen
    Pages 35-49
  4. Li-Xi Li, Zhi-Jun Liu, Wan-Jin Chen, Hong-Xia Wang, Hong-Lei Li, Sheng Chen
    Pages 51-76
  5. Hong-Fu Li, Yu Lin, Hao Yu, Yi Dong, Hong-Lei Li
    Pages 77-94
  6. Yu Lin
    Pages 95-100
  7. Zhi-Qiang Wang, Wan-Jin Chen
    Pages 101-123
  8. Hong-Lei Li, Yan-Bin Zhang, Sheng Chen, Bin Cai, Zhi-Jun Liu, Yan-Fang Niu et al.
    Pages 125-147

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 2addresses 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 4Section 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.

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.


Neurologicalgenetic disorders Clinical Reasoning Genetic confirming Pathologic diagnosis Systematic reviews

Editors and affiliations

  • Zhi-Ying Wu
    • 1
  1. 1.Department of Neurology and Research Center of Neurology, Second Affiliated HospitalZhejiang University School of MedicineHangzhouChina

Bibliographic information

  • DOI
  • Copyright Information Springer Nature Singapore Pte Ltd. 2017
  • Publisher Name Springer, Singapore
  • eBook Packages Medicine
  • Print ISBN 978-981-10-4195-2
  • Online ISBN 978-981-10-4196-9
  • Buy this book on publisher's site