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Inherited Neurological Disorders: Diagnosis and Case Study

Editat de Zhi-Ying Wu
en Limba Engleză Hardback – 31 iul 2017
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 imagingmaterial 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.
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Specificații

ISBN-13: 9789811041952
ISBN-10: 9811041954
Pagini: 147
Ilustrații: V, 147 p. 105 illus., 56 illus. in color.
Dimensiuni: 178 x 254 mm
Greutate: 0.51 kg
Ediția:1st ed. 2017
Editura: Springer Nature Singapore
Colecția Springer
Locul publicării:Singapore, Singapore

Cuprins

Cerebellar ataxia.- Epileptic attacks related disorders.- Motor neuron related disorders.- Movement disorders.- Ion channel diseases.- Muscle Diseases.- Dementia and psychiatric disorders.

Notă biografică

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.

Textul de pe ultima copertă

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 regardingdiagnosis 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.

Caracteristici

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