Limit search to available items
Book Cover
E-book

Title Inherited neurological disorders : diagnosis and case study / Zhi-Ying Wu, editor
Published Singapore : Springer, 2017
Online access available from:
Springer eBooks    View Resource Record  

Copies

Description 1 online resource (v, 147 pages) : illustrations (some color)
Contents 1: Cerebellar Ataxia; 1.1 Spinocerebellar Ataxia Type 1 (SCA1); A 36-Year-Old Male Presented with Gait Disturbance and Urine Incontinence; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.2 Spinocerebellar Ataxia Type 2 (SCA2); A 33-Year-Old Man Presented with Uncontrolled Movement of Head and Gait Disturbance; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.3 Spinocerebellar Ataxia Type 3 (SCA3); A 57-Year-Old Woman Presented with Ataxia and Peripheral Neuropathy
1.9 Gerstmann-Straussler-Scheinker (GSS) A 59-Year-Old Woman with Progressive Gait Unsteadiness; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.10 Ataxia with Oculomotor Apraxia Type 2 (AOA2); A 25-Year-Old Woman with Gait Unsteadiness and Tremble; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; References; 2: Epileptic Attack-Related Disorders; 2.1 Mitochondrial EncephaloƯmyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
A 20-Year-Old Girl with Transient Loss of Consciousness and Seizures Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 2.2 Myoclonus Epilepsy Associated with Ragged Red Fibers (MERRF); A 52-Year-Old Female Presented with Paroxysmal Right Upper Limb Tics; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 2.3 Cherry-Red Spot Myoclonus; A 13-Year-Old Boy Underwent 6 Years of Hypopsia and 2 Years of Limb Tic; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion
A 61-Year-Old Woman Presented with Action Tremor and Ataxia Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.7 Spinocerebellar Ataxia Type 17 (SCA17); A 45-Year-Old Female Presented with Gait Disturbance and Mood Changes; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.8 Dentatorubral-Pallidoluysian Atrophy (DRPLA); A 51-Year-Old Male Presented with an Unsteady Gait and Slurred Speech; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion
Clinical Presentations Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.4 Spinocerebellar Ataxia Type 6 (SCA6); A 49-Year-Old Female Presented with Gait Disturbance and Dysarthria; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.5 Spinocerebellar Ataxia Type 7 (SCA7); A 22-Year-Old Girl Presented with Ataxia and Visual Dysfunction; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.6 Spinocerebellar Ataxia Type 12 (SCA12)
Summary 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 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. 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
Notes Print version record
Subject Nervous system -- Diseases -- Genetic aspects.
Nervous System Diseases.
Nervous System -- pathology.
Form Electronic book
Author Wu, Zhi-Ying.
ISBN 9789811041969 (electronic bk.)
9811041962 (electronic bk.)