Additional Information
Book Details
Abstract
This issue of Neurologic Clinics features a review of clinical neurogenetics as it pertains to the following disorders: Huntington Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome (FXTAS); Lysosomal Storage Diseases; Psychiatric Disorders; Dominant Spinocerebellar Ataxias; Metabolic Disorders; Friedreich Ataxia; ALS; Dementia; Neuromuscular Disorders; Stroke; Epilepsy; and Dystonia.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Clinical Neurogenetics | i | ||
| Copyright\r | ii | ||
| Contributors | iii | ||
| Contents | v | ||
| Forthcoming Issues | ix | ||
| Preface | xi | ||
| Clinical Neurogenetics | 891 | ||
| Key points | 891 | ||
| Introduction | 891 | ||
| Definitions | 891 | ||
| Classification | 891 | ||
| Clinical findings, genetics, and etiology | 893 | ||
| Primary Genetic Causes/Electroclinical Syndromes | 893 | ||
| Syndromes with onset in the neonatal period and infancy | 893 | ||
| Syndromes with onset in childhood and adolescence | 897 | ||
| Structural/Metabolic Causes | 898 | ||
| Evaluation and management | 903 | ||
| Strategies for Diagnosis | 903 | ||
| Current Management and Therapeutic Options | 906 | ||
| Summary and future directions | 906 | ||
| References | 907 | ||
| Clinical Neurogenetics | 915 | ||
| Key points | 915 | ||
| Introduction | 915 | ||
| Stroke as a phenotype: definition and variability | 916 | ||
| Etiologic Stroke Subtypes | 916 | ||
| Intermediate Cerebrovascular Phenotypes | 917 | ||
| Genetic disorders associated with stroke | 918 | ||
| Heritability of Stroke | 918 | ||
| Known Monogenic Stroke Disorders | 918 | ||
| Complex genetics of stroke | 918 | ||
| Overview of Concepts and Methodology | 918 | ||
| Genetic Architecture of Cerebrovascular Disorders | 920 | ||
| Ischemic stroke | 920 | ||
| ICH | 921 | ||
| WMH | 922 | ||
| Future research and clinical implications | 923 | ||
| References | 923 | ||
| Clinical Neurogenetics | 929 | ||
| Key points | 929 | ||
| Definition | 929 | ||
| Symptoms and clinical course | 929 | ||
| Nature of the disease | 931 | ||
| Clinical findings | 931 | ||
| Physical Examination | 931 | ||
| Other Diagnostic Modalities | 932 | ||
| Genetic basis of disease | 932 | ||
| C9ORF72 | 933 | ||
| SOD1 | 933 | ||
| TARDBP | 936 | ||
| FUS | 936 | ||
| UBQLN2 | 937 | ||
| PFN1 | 937 | ||
| ANG | 938 | ||
| OPTN | 938 | ||
| VCP | 938 | ||
| SETX | 938 | ||
| VAPB | 939 | ||
| Other Genes | 939 | ||
| Genomics/risk variants | 939 | ||
| Evaluation and management | 939 | ||
| Strategies for Diagnosis | 939 | ||
| Current Management and Therapeutic Options | 940 | ||
| Summary | 940 | ||
| References | 940 | ||
| Clinical Neurogenetics | 951 | ||
| Key points | 951 | ||
| Introduction | 951 | ||
| Symptoms and clinical course | 952 | ||
| Psychiatric comorbidities | 953 | ||
| Nature of the disease | 953 | ||
| Clinical findings (case study) | 954 | ||
| Genetics | 954 | ||
| Disease pathology | 955 | ||
| Evaluation and management | 957 | ||
| The role of genetic testing | 957 | ||
| Summary | 962 | ||
| References | 962 | ||
| Clinical Neurogenetics | 969 | ||
| Key points | 969 | ||
| Introduction | 969 | ||
| Definition | 969 | ||
| Symptoms and Clinical Course | 969 | ||
| Nature of Disease | 975 | ||
| Clinical findings | 975 | ||
| Physical Examination | 975 | ||
| Imaging | 976 | ||
| Other Diagnostic Modalities | 976 | ||
| Electromyography | 976 | ||
| Transcranial magnetic stimulation | 976 | ||
| Polysomnography | 976 | ||
| Sensory discrimination testing | 978 | ||
| Impaired motor learning | 978 | ||
| Disease pathology | 978 | ||
| Genetics | 979 | ||
| Molecular Pathogenesis | 980 | ||
| Medical management of dystonia | 980 | ||
| Surgical management of dystonia | 980 | ||
| Summary | 982 | ||
| References | 982 | ||
| Clinical Neurogenetics | 987 | ||
| Key points | 987 | ||
| Introduction | 987 | ||
| Definition | 987 | ||
| Symptoms and Clinical Course | 987 | ||
| Clinical findings | 988 | ||
| Physical Examination | 988 | ||
| Genetics | 988 | ||
| Molecular pathogenesis | 988 | ||
| Polyglutamine Ataxias | 994 | ||
| Ion-channel Mutations/Dysfunction | 994 | ||
| Signal Transduction | 995 | ||
| Noncoding Repeats/RNA Toxicity | 995 | ||
| Genomics | 996 | ||
| Disease models | 996 | ||
| Evaluation and Management | 996 | ||
| Clinical Examination and Diagnostic Testing | 996 | ||
| Genetic Testing | 998 | ||
| Current Management and Therapeutic Options | 1000 | ||
| Summary | 1003 | ||
| References | 1003 | ||
| Muscular Dystrophies and Other Genetic Myopathies | 1009 | ||
| Key points | 1009 | ||
| Introduction | 1009 | ||
| Duchenne muscular dystrophy and Becker muscular dystrophy | 1010 | ||
| Facioscapulohumeral muscular dystrophy | 1011 | ||
| Myotonic dystrophy | 1012 | ||
| Limb-girdle muscular dystrophy | 1013 | ||
| Emery-Dreifuss muscular dystrophy | 1014 | ||
| Distal myopathies | 1015 | ||
| Oculopharyngeal muscular dystrophies | 1015 | ||
| Congenital myopathies | 1017 | ||
| Congenital muscular dystrophies | 1017 | ||
| Congenital myasthenic syndromes | 1017 | ||
| Metabolic myopathies | 1018 | ||
| Periodic paralysis and other muscle channelopathies | 1022 | ||
| Autophagic vaculolar myopathies | 1022 | ||
| Diagnostic approach | 1022 | ||
| Summary | 1025 | ||
| References | 1026 | ||
| Clinical Neurogenetics | 1031 | ||
| Key points | 1031 | ||
| Small molecule disorders: overview | 1031 | ||
| Defects of amino acid metabolism | 1032 | ||
| Introduction: Clinical Aspects | 1032 | ||
| Organic Acidemias | 1035 | ||
| Aminoacidopathies | 1039 | ||
| Urea Cycle Defects | 1041 | ||
| Other small molecule disorders | 1041 | ||
| Summary | 1048 | ||
| References | 1048 | ||
| Clinical Neurogenetics | 1051 | ||
| Key points | 1051 | ||
| Introduction | 1051 | ||
| Definition | 1051 | ||
| Symptoms and Clinical Course | 1052 | ||
| Nature of Disease | 1052 | ||
| Clinical findings | 1052 | ||
| Physical Examination | 1052 | ||
| Imaging | 1059 | ||
| Other Diagnostic Modalities | 1059 | ||
| Disease Pathology | 1059 | ||
| Genetics | 1061 | ||
| Genetic Basis of Disease | 1061 | ||
| Molecular Pathogenesis | 1062 | ||
| Relevant Disease Models | 1065 | ||
| Evaluation and management | 1066 | ||
| Strategies for Diagnosis | 1066 | ||
| Current Management and Therapeutic Options | 1066 | ||
| Future Directions in Therapy and Diagnosis | 1067 | ||
| Summary | 1068 | ||
| Acknowledgments | 1068 | ||
| References | 1068 | ||
| Clinical Neurogenetics | 1073 | ||
| Key points | 1073 | ||
| Introduction | 1073 | ||
| Definition | 1073 | ||
| Symptoms and Clinical Course | 1073 | ||
| Nature of Disease | 1074 | ||
| Clinical Findings | 1075 | ||
| Imaging | 1075 | ||
| Other Diagnostic Modalities | 1076 | ||
| Disease Pathology | 1076 | ||
| Genetics | 1076 | ||
| Genetic Basis of Disease | 1076 | ||
| Molecular Pathogenesis | 1078 | ||
| Relevant Disease Models | 1078 | ||
| Evaluation and management | 1079 | ||
| Strategies for Diagnosis | 1079 | ||
| Current Management and Therapeutic Options | 1079 | ||
| Future Directions in Therapy and Diagnosis | 1080 | ||
| Summary | 1080 | ||
| References | 1080 | ||
| Clinical Neurogenetics | 1085 | ||
| Key points | 1085 | ||
| Introduction | 1085 | ||
| Clinical findings | 1086 | ||
| Genetics and disease pathology | 1087 | ||
| Evaluation and management | 1089 | ||
| Treatment strategies | 1091 | ||
| Motor Symptoms | 1091 | ||
| Behavioral Symptoms | 1091 | ||
| Cognitive Symptoms | 1092 | ||
| Future directions in therapy | 1092 | ||
| Summary | 1092 | ||
| References | 1093 | ||
| Clinical Neurogenetics | 1095 | ||
| Key points | 1095 | ||
| Introduction | 1095 | ||
| Symptoms and clinical course | 1095 | ||
| Epidemiology | 1096 | ||
| Clinical findings | 1097 | ||
| Physical Examination | 1097 | ||
| Imaging | 1097 | ||
| Disease pathology | 1098 | ||
| Genetics | 1100 | ||
| Genetic Basis of Disease | 1100 | ||
| Molecular Pathogenesis: Frataxin Production and Function | 1101 | ||
| Genomics | 1103 | ||
| Evaluation and management | 1105 | ||
| Strategies for Diagnosis | 1105 | ||
| Current Management Strategies and Therapeutic Options | 1106 | ||
| Future Directions in Therapy and Diagnosis | 1107 | ||
| Summary | 1114 | ||
| References | 1114 | ||
| Clinical Neurogenetics | 1121 | ||
| Key points | 1121 | ||
| Introduction | 1121 | ||
| Clinical findings | 1122 | ||
| Major Depression | 1122 | ||
| Apathy | 1124 | ||
| Mania and Bipolar Affective Disorder | 1124 | ||
| Attention Deficit-hyperactivity Disorder Versus Bipolar Affective Disorder | 1124 | ||
| Obsessions and Compulsions Versus Impulsions | 1124 | ||
| Obsessions Versus Perseveration | 1125 | ||
| Irritability and Aggression | 1125 | ||
| Anxiety Versus Akathisia | 1125 | ||
| Suicidality | 1126 | ||
| Evaluation and management | 1126 | ||
| Effective Treatment Planning Will Include the Following Components | 1126 | ||
| Adverse effects | 1129 | ||
| Serotonin Syndrome | 1130 | ||
| Antidepressant Withdrawal Syndrome | 1131 | ||
| Antidepressant-induced Sexual Dysfunction | 1131 | ||
| Lithium Toxicity | 1136 | ||
| Dopamine Dysregulation Syndrome | 1136 | ||
| Summary | 1137 | ||
| References | 1137 | ||
| Index | 1145 |